Links from Gene
Items: 1 to 20 of 1000
3.
rs1491552522 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->AAATATAA
[Show Flanks]
- Chromosome:
- 3:36879847
(GRCh38)
3:36921339
(GRCh37)
- Canonical SPDI:
- NC_000003.12:36879847::AAATATAA
- Gene:
- TRANK1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AAATATAA=0.00244/29
(
ALFA)
- HGVS:
4.
rs1491521555 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,AAAA
[Show Flanks]
- Chromosome:
- 3:36879781
(GRCh38)
3:36921272
(GRCh37)
- Canonical SPDI:
- NC_000003.12:36879779:AAA:A,NC_000003.12:36879779:AAA:AAAAA
- Gene:
- TRANK1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAA=0./0
(
ALFA)
-=0.00005/3
(GnomAD)
-=0.00023/3
(TOMMO)
- HGVS:
5.
rs1491518148 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 3:36901101
(GRCh38)
3:36942592
(GRCh37)
- Canonical SPDI:
- NC_000003.12:36901099:TGT:T
- Gene:
- TRANK1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
-=0.00001/1
(GnomAD)
- HGVS:
6.
rs1491509848 has merged into rs34540496 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,T,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:36865034
(GRCh38)
3:36906525
(GRCh37)
- Canonical SPDI:
- NC_000003.12:36865024:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:36865024:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:36865024:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:36865024:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:36865024:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:36865024:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:36865024:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:36865024:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:36865024:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:36865024:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:36865024:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:36865024:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:36865024:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:36865024:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:36865024:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:36865024:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:36865024:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:36865024:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:36865024:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:36865024:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:36865024:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:36865024:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:36865024:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:36865024:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:36865024:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:36865024:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:36865024:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- TRANK1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
T=0.375/15
(GENOME_DK)
- HGVS:
NC_000003.12:g.36865034_36865045del, NC_000003.12:g.36865035_36865045del, NC_000003.12:g.36865038_36865045del, NC_000003.12:g.36865039_36865045del, NC_000003.12:g.36865040_36865045del, NC_000003.12:g.36865041_36865045del, NC_000003.12:g.36865042_36865045del, NC_000003.12:g.36865043_36865045del, NC_000003.12:g.36865044_36865045del, NC_000003.12:g.36865045del, NC_000003.12:g.36865045dup, NC_000003.12:g.36865044_36865045dup, NC_000003.12:g.36865043_36865045dup, NC_000003.12:g.36865042_36865045dup, NC_000003.12:g.36865025_36865045T[25]GTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.36865041_36865045dup, NC_000003.12:g.36865040_36865045dup, NC_000003.12:g.36865039_36865045dup, NC_000003.12:g.36865038_36865045dup, NC_000003.12:g.36865037_36865045dup, NC_000003.12:g.36865036_36865045dup, NC_000003.12:g.36865029_36865045dup, NC_000003.12:g.36865028_36865045dup, NC_000003.12:g.36865025_36865045T[39]GTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.36865027_36865045dup, NC_000003.12:g.36865026_36865045dup, NC_000003.12:g.36865045_36865046insTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.36906525_36906536del, NC_000003.11:g.36906526_36906536del, NC_000003.11:g.36906529_36906536del, NC_000003.11:g.36906530_36906536del, NC_000003.11:g.36906531_36906536del, NC_000003.11:g.36906532_36906536del, NC_000003.11:g.36906533_36906536del, NC_000003.11:g.36906534_36906536del, NC_000003.11:g.36906535_36906536del, NC_000003.11:g.36906536del, NC_000003.11:g.36906536dup, NC_000003.11:g.36906535_36906536dup, NC_000003.11:g.36906534_36906536dup, NC_000003.11:g.36906533_36906536dup, NC_000003.11:g.36906516_36906536T[25]GTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.36906532_36906536dup, NC_000003.11:g.36906531_36906536dup, NC_000003.11:g.36906530_36906536dup, NC_000003.11:g.36906529_36906536dup, NC_000003.11:g.36906528_36906536dup, NC_000003.11:g.36906527_36906536dup, NC_000003.11:g.36906520_36906536dup, NC_000003.11:g.36906519_36906536dup, NC_000003.11:g.36906516_36906536T[39]GTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.36906518_36906536dup, NC_000003.11:g.36906517_36906536dup, NC_000003.11:g.36906536_36906537insTTTTTTTTTTTTTTTTTTTTTT
7.
rs1491500618 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AAGAAA
[Show Flanks]
- Chromosome:
- 3:36866046
(GRCh38)
3:36907538
(GRCh37)
- Canonical SPDI:
- NC_000003.12:36866046:AAAGAAAAAGAAA:AAAGAAAAAGAAAAAGAAA
- Gene:
- TRANK1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AAAGAAAAAGAAAAAGAAA=0./0
(
ALFA)
AAAGAA=0.000009/1
(GnomAD)
- HGVS:
11.
rs1491470181 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 3:36835318
(GRCh38)
3:36876809
(GRCh37)
- Canonical SPDI:
- NC_000003.12:36835317:CA:
- Gene:
- TRANK1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00046/11
(TOMMO)
- HGVS:
12.
rs1491464042 has merged into rs1277753102 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA
[Show Flanks]
- Chromosome:
- 3:36866114
(GRCh38)
3:36907605
(GRCh37)
- Canonical SPDI:
- NC_000003.12:36866112:AAA:A,NC_000003.12:36866112:AAA:AA,NC_000003.12:36866112:AAA:AAAA
- Gene:
- TRANK1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
-=0.000029/4
(GnomAD)
- HGVS:
13.
rs1491463763 has merged into rs138198488 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:36900861
(GRCh38)
3:36942352
(GRCh37)
- Canonical SPDI:
- NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36900851:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- TRANK1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000003.12:g.36900861_36900876del, NC_000003.12:g.36900862_36900876del, NC_000003.12:g.36900863_36900876del, NC_000003.12:g.36900864_36900876del, NC_000003.12:g.36900865_36900876del, NC_000003.12:g.36900866_36900876del, NC_000003.12:g.36900867_36900876del, NC_000003.12:g.36900868_36900876del, NC_000003.12:g.36900869_36900876del, NC_000003.12:g.36900870_36900876del, NC_000003.12:g.36900871_36900876del, NC_000003.12:g.36900872_36900876del, NC_000003.12:g.36900873_36900876del, NC_000003.12:g.36900874_36900876del, NC_000003.12:g.36900875_36900876del, NC_000003.12:g.36900876del, NC_000003.12:g.36900876dup, NC_000003.12:g.36900875_36900876dup, NC_000003.12:g.36900874_36900876dup, NC_000003.12:g.36900873_36900876dup, NC_000003.12:g.36900872_36900876dup, NC_000003.12:g.36900871_36900876dup, NC_000003.12:g.36900870_36900876dup, NC_000003.12:g.36900869_36900876dup, NC_000003.12:g.36900868_36900876dup, NC_000003.12:g.36900867_36900876dup, NC_000003.12:g.36900866_36900876dup, NC_000003.12:g.36900865_36900876dup, NC_000003.12:g.36900864_36900876dup, NC_000003.12:g.36900863_36900876dup, NC_000003.12:g.36900862_36900876dup, NC_000003.12:g.36900861_36900876dup, NC_000003.12:g.36900860_36900876dup, NC_000003.12:g.36900859_36900876dup, NC_000003.12:g.36900858_36900876dup, NC_000003.12:g.36900857_36900876dup, NC_000003.12:g.36900856_36900876dup, NC_000003.12:g.36900855_36900876dup, NC_000003.12:g.36900854_36900876dup, NC_000003.12:g.36900853_36900876dup, NC_000003.12:g.36900852_36900876dup, NC_000003.12:g.36900876_36900877insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.36900876_36900877insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.36900876_36900877insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.36900876_36900877insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.36900876_36900877insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.36900876_36900877insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.36900876_36900877insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.36900876_36900877insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.36900876_36900877insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.36900876_36900877insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.36900876_36900877insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.36900876_36900877insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.36900876_36900877insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.36900876_36900877insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.36900876_36900877insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.36900876_36900877insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.36900876_36900877insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.36900876_36900877insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.36900876_36900877insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.36900876_36900877insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.36900876_36900877insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.36900876_36900877insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.36900876_36900877insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.36900876_36900877insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.36942352_36942367del, NC_000003.11:g.36942353_36942367del, NC_000003.11:g.36942354_36942367del, NC_000003.11:g.36942355_36942367del, NC_000003.11:g.36942356_36942367del, NC_000003.11:g.36942357_36942367del, NC_000003.11:g.36942358_36942367del, NC_000003.11:g.36942359_36942367del, NC_000003.11:g.36942360_36942367del, NC_000003.11:g.36942361_36942367del, NC_000003.11:g.36942362_36942367del, NC_000003.11:g.36942363_36942367del, NC_000003.11:g.36942364_36942367del, NC_000003.11:g.36942365_36942367del, NC_000003.11:g.36942366_36942367del, NC_000003.11:g.36942367del, NC_000003.11:g.36942367dup, NC_000003.11:g.36942366_36942367dup, NC_000003.11:g.36942365_36942367dup, NC_000003.11:g.36942364_36942367dup, NC_000003.11:g.36942363_36942367dup, NC_000003.11:g.36942362_36942367dup, NC_000003.11:g.36942361_36942367dup, NC_000003.11:g.36942360_36942367dup, NC_000003.11:g.36942359_36942367dup, NC_000003.11:g.36942358_36942367dup, NC_000003.11:g.36942357_36942367dup, NC_000003.11:g.36942356_36942367dup, NC_000003.11:g.36942355_36942367dup, NC_000003.11:g.36942354_36942367dup, NC_000003.11:g.36942353_36942367dup, NC_000003.11:g.36942352_36942367dup, NC_000003.11:g.36942351_36942367dup, NC_000003.11:g.36942350_36942367dup, NC_000003.11:g.36942349_36942367dup, NC_000003.11:g.36942348_36942367dup, NC_000003.11:g.36942347_36942367dup, NC_000003.11:g.36942346_36942367dup, NC_000003.11:g.36942345_36942367dup, NC_000003.11:g.36942344_36942367dup, NC_000003.11:g.36942343_36942367dup, NC_000003.11:g.36942367_36942368insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.36942367_36942368insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.36942367_36942368insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.36942367_36942368insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.36942367_36942368insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.36942367_36942368insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.36942367_36942368insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.36942367_36942368insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.36942367_36942368insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.36942367_36942368insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.36942367_36942368insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.36942367_36942368insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.36942367_36942368insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.36942367_36942368insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.36942367_36942368insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.36942367_36942368insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.36942367_36942368insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.36942367_36942368insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.36942367_36942368insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.36942367_36942368insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.36942367_36942368insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.36942367_36942368insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.36942367_36942368insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.36942367_36942368insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
14.
rs1491460549 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 3:36870962
(GRCh38)
3:36912453
(GRCh37)
- Canonical SPDI:
- NC_000003.12:36870961:TA:
- Gene:
- TRANK1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00093/11
(
ALFA)
-=0.00247/58
(GnomAD)
- HGVS:
15.
rs1491458940 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 3:36884950
(GRCh38)
3:36926442
(GRCh37)
- Canonical SPDI:
- NC_000003.12:36884950:TT:TTT
- Gene:
- TRANK1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTT=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000008/1
(GnomAD)
- HGVS:
16.
rs1491456558 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTT
[Show Flanks]
- Chromosome:
- 3:36838606
(GRCh38)
3:36880098
(GRCh37)
- Canonical SPDI:
- NC_000003.12:36838606:TCTT:TCTTCTT
- Gene:
- TRANK1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency
- MAF:
TCT=0.000004/1
(GnomAD_exomes)
- HGVS:
17.
rs1491455235 has merged into rs563787088 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAACAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAACAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAGAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:36870975
(GRCh38)
3:36912466
(GRCh37)
- Canonical SPDI:
- NC_000003.12:36870962:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:36870962:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:36870962:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:36870962:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:36870962:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:36870962:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:36870962:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:36870962:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:36870962:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36870962:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36870962:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36870962:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36870962:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36870962:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36870962:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36870962:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36870962:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36870962:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36870962:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36870962:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36870962:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36870962:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36870962:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36870962:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36870962:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36870962:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36870962:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36870962:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36870962:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36870962:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36870962:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36870962:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36870962:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36870962:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36870962:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36870962:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36870962:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36870962:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36870962:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36870962:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36870962:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36870962:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:36870962:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- TRANK1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000003.12:g.36870975_36870987del, NC_000003.12:g.36870976_36870987del, NC_000003.12:g.36870977_36870987del, NC_000003.12:g.36870978_36870987del, NC_000003.12:g.36870980_36870987del, NC_000003.12:g.36870981_36870987del, NC_000003.12:g.36870982_36870987del, NC_000003.12:g.36870983_36870987del, NC_000003.12:g.36870984_36870987del, NC_000003.12:g.36870985_36870987del, NC_000003.12:g.36870986_36870987del, NC_000003.12:g.36870987del, NC_000003.12:g.36870987dup, NC_000003.12:g.36870986_36870987dup, NC_000003.12:g.36870985_36870987dup, NC_000003.12:g.36870984_36870987dup, NC_000003.12:g.36870983_36870987dup, NC_000003.12:g.36870982_36870987dup, NC_000003.12:g.36870981_36870987dup, NC_000003.12:g.36870980_36870987dup, NC_000003.12:g.36870979_36870987dup, NC_000003.12:g.36870978_36870987dup, NC_000003.12:g.36870977_36870987dup, NC_000003.12:g.36870976_36870987dup, NC_000003.12:g.36870975_36870987dup, NC_000003.12:g.36870974_36870987dup, NC_000003.12:g.36870973_36870987dup, NC_000003.12:g.36870972_36870987dup, NC_000003.12:g.36870971_36870987dup, NC_000003.12:g.36870970_36870987dup, NC_000003.12:g.36870969_36870987dup, NC_000003.12:g.36870967_36870987dup, NC_000003.12:g.36870966_36870987dup, NC_000003.12:g.36870965_36870987dup, NC_000003.12:g.36870964_36870987dup, NC_000003.12:g.36870987_36870988insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.36870987_36870988insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.36870987_36870988insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.36870963_36870987A[33]CAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.36870963_36870987A[33]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.12:g.36870963_36870987A[32]CAAAAAAA[2]A[19], NC_000003.12:g.36870963_36870987A[26]CAAAAAAA[2]A[19], NC_000003.12:g.36870963_36870987A[26]GAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.36912466_36912478del, NC_000003.11:g.36912467_36912478del, NC_000003.11:g.36912468_36912478del, NC_000003.11:g.36912469_36912478del, NC_000003.11:g.36912471_36912478del, NC_000003.11:g.36912472_36912478del, NC_000003.11:g.36912473_36912478del, NC_000003.11:g.36912474_36912478del, NC_000003.11:g.36912475_36912478del, NC_000003.11:g.36912476_36912478del, NC_000003.11:g.36912477_36912478del, NC_000003.11:g.36912478del, NC_000003.11:g.36912478dup, NC_000003.11:g.36912477_36912478dup, NC_000003.11:g.36912476_36912478dup, NC_000003.11:g.36912475_36912478dup, NC_000003.11:g.36912474_36912478dup, NC_000003.11:g.36912473_36912478dup, NC_000003.11:g.36912472_36912478dup, NC_000003.11:g.36912471_36912478dup, NC_000003.11:g.36912470_36912478dup, NC_000003.11:g.36912469_36912478dup, NC_000003.11:g.36912468_36912478dup, NC_000003.11:g.36912467_36912478dup, NC_000003.11:g.36912466_36912478dup, NC_000003.11:g.36912465_36912478dup, NC_000003.11:g.36912464_36912478dup, NC_000003.11:g.36912463_36912478dup, NC_000003.11:g.36912462_36912478dup, NC_000003.11:g.36912461_36912478dup, NC_000003.11:g.36912460_36912478dup, NC_000003.11:g.36912458_36912478dup, NC_000003.11:g.36912457_36912478dup, NC_000003.11:g.36912456_36912478dup, NC_000003.11:g.36912455_36912478dup, NC_000003.11:g.36912478_36912479insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.36912478_36912479insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.36912478_36912479insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.36912454_36912478A[33]CAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.36912454_36912478A[33]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.36912454_36912478A[32]CAAAAAAA[2]A[19], NC_000003.11:g.36912454_36912478A[26]CAAAAAAA[2]A[19], NC_000003.11:g.36912454_36912478A[26]GAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
18.
rs1491453882 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 3:36884950
(GRCh38)
3:36926441
(GRCh37)
- Canonical SPDI:
- NC_000003.12:36884949:AT:
- Gene:
- TRANK1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00011/3
(TOMMO)
- HGVS:
19.
rs1491453379 has merged into rs11445289 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,T,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:36886918
(GRCh38)
3:36928409
(GRCh37)
- Canonical SPDI:
- NC_000003.12:36886904:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:36886904:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:36886904:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:36886904:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:36886904:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:36886904:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:36886904:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:36886904:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:36886904:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:36886904:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:36886904:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:36886904:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:36886904:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:36886904:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- TRANK1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000003.12:g.36886918_36886924del, NC_000003.12:g.36886919_36886924del, NC_000003.12:g.36886922_36886924del, NC_000003.12:g.36886923_36886924del, NC_000003.12:g.36886924del, NC_000003.12:g.36886924dup, NC_000003.12:g.36886923_36886924dup, NC_000003.12:g.36886922_36886924dup, NC_000003.12:g.36886921_36886924dup, NC_000003.12:g.36886920_36886924dup, NC_000003.12:g.36886919_36886924dup, NC_000003.12:g.36886913_36886924dup, NC_000003.12:g.36886911_36886924dup, NC_000003.12:g.36886924_36886925insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.36928409_36928415del, NC_000003.11:g.36928410_36928415del, NC_000003.11:g.36928413_36928415del, NC_000003.11:g.36928414_36928415del, NC_000003.11:g.36928415del, NC_000003.11:g.36928415dup, NC_000003.11:g.36928414_36928415dup, NC_000003.11:g.36928413_36928415dup, NC_000003.11:g.36928412_36928415dup, NC_000003.11:g.36928411_36928415dup, NC_000003.11:g.36928410_36928415dup, NC_000003.11:g.36928404_36928415dup, NC_000003.11:g.36928402_36928415dup, NC_000003.11:g.36928415_36928416insTTTTTTTTTTTTTTTTTTTTTTTTTTT