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Select item 14915458631.

rs1491545863 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 7:105076872 (GRCh38)
7:104717319 (GRCh37)
Canonical SPDI:: NC_000007.14:105076869:TTTT:TT
Gene:: KMT2E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
-=0.000082/9 (GnomAD)
-=0.003821/7 (Korea1K)
-=0.007648/128 (TOMMO)
HGVS:: NC_000007.14:g.105076872_105076873del, NC_000007.13:g.104717319_104717320del, NG_033949.1:g.67683_67684del

Select item 14915304032.

rs1491530403 has merged into rs57911728 [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,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:105070641 (GRCh38)
7:104711088 (GRCh37)
Canonical SPDI:: NC_000007.14:105070632:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000007.14:105070632:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000007.14:105070632:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:105070632:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:105070632:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:105070632:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:105070632:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:105070632:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:105070632:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:105070632:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:105070632:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:105070632:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:105070632:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:105070632:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:105070632:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:105070632:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:105070632:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:105070632:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:105070632:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:105070632:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:105070632:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:105070632:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:105070632:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:105070632:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: KMT2E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000007.14:g.105070641_105070656del, NC_000007.14:g.105070642_105070656del, NC_000007.14:g.105070643_105070656del, NC_000007.14:g.105070644_105070656del, NC_000007.14:g.105070645_105070656del, NC_000007.14:g.105070646_105070656del, NC_000007.14:g.105070647_105070656del, NC_000007.14:g.105070648_105070656del, NC_000007.14:g.105070649_105070656del, NC_000007.14:g.105070650_105070656del, NC_000007.14:g.105070651_105070656del, NC_000007.14:g.105070652_105070656del, NC_000007.14:g.105070653_105070656del, NC_000007.14:g.105070654_105070656del, NC_000007.14:g.105070655_105070656del, NC_000007.14:g.105070656del, NC_000007.14:g.105070656dup, NC_000007.14:g.105070655_105070656dup, NC_000007.14:g.105070654_105070656dup, NC_000007.14:g.105070653_105070656dup, NC_000007.14:g.105070652_105070656dup, NC_000007.14:g.105070651_105070656dup, NC_000007.14:g.105070650_105070656dup, NC_000007.14:g.105070646_105070656dup, NC_000007.13:g.104711088_104711103del, NC_000007.13:g.104711089_104711103del, NC_000007.13:g.104711090_104711103del, NC_000007.13:g.104711091_104711103del, NC_000007.13:g.104711092_104711103del, NC_000007.13:g.104711093_104711103del, NC_000007.13:g.104711094_104711103del, NC_000007.13:g.104711095_104711103del, NC_000007.13:g.104711096_104711103del, NC_000007.13:g.104711097_104711103del, NC_000007.13:g.104711098_104711103del, NC_000007.13:g.104711099_104711103del, NC_000007.13:g.104711100_104711103del, NC_000007.13:g.104711101_104711103del, NC_000007.13:g.104711102_104711103del, NC_000007.13:g.104711103del, NC_000007.13:g.104711103dup, NC_000007.13:g.104711102_104711103dup, NC_000007.13:g.104711101_104711103dup, NC_000007.13:g.104711100_104711103dup, NC_000007.13:g.104711099_104711103dup, NC_000007.13:g.104711098_104711103dup, NC_000007.13:g.104711097_104711103dup, NC_000007.13:g.104711093_104711103dup, NG_033949.1:g.61452_61467del, NG_033949.1:g.61453_61467del, NG_033949.1:g.61454_61467del, NG_033949.1:g.61455_61467del, NG_033949.1:g.61456_61467del, NG_033949.1:g.61457_61467del, NG_033949.1:g.61458_61467del, NG_033949.1:g.61459_61467del, NG_033949.1:g.61460_61467del, NG_033949.1:g.61461_61467del, NG_033949.1:g.61462_61467del, NG_033949.1:g.61463_61467del, NG_033949.1:g.61464_61467del, NG_033949.1:g.61465_61467del, NG_033949.1:g.61466_61467del, NG_033949.1:g.61467del, NG_033949.1:g.61467dup, NG_033949.1:g.61466_61467dup, NG_033949.1:g.61465_61467dup, NG_033949.1:g.61464_61467dup, NG_033949.1:g.61463_61467dup, NG_033949.1:g.61462_61467dup, NG_033949.1:g.61461_61467dup, NG_033949.1:g.61457_61467dup

Select item 14915186173.

rs1491518617 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT,GTGT [Show Flanks]
Chromosome:: 7:105076870 (GRCh38)
7:104717318 (GRCh37)
Canonical SPDI:: NC_000007.14:105076870:T:TGT,NC_000007.14:105076870:T:TGTGT
Gene:: KMT2E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGTGT=0./0 (ALFA)
HGVS:: NC_000007.14:g.105076871_105076872insGT, NC_000007.14:g.105076871_105076872insGTGT, NC_000007.13:g.104717318_104717319insGT, NC_000007.13:g.104717318_104717319insGTGT, NG_033949.1:g.67682_67683insGT, NG_033949.1:g.67682_67683insGTGT

Select item 14915038134.

rs1491503813 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 7:105032071 (GRCh38)
7:104672519 (GRCh37)
Canonical SPDI:: NC_000007.14:105032071:A:AA
Gene:: KMT2E (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000007.14:g.105032072dup, NC_000007.13:g.104672519dup, NG_033949.1:g.22883dup

Select item 14914959195.

rs1491495919 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->C
Chromosome:: no mapping
Canonical SPDI:

Select item 14914791596.

rs1491479159 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TATATAT [Show Flanks]
Chromosome:: 7:105087290 (GRCh38)
7:104727738 (GRCh37)
Canonical SPDI:: NC_000007.14:105087290:TATATAT:TATATATTATATAT
Gene:: KMT2E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATTATATAT=0./0 (ALFA)
TATATAT=0.000007/1 (GnomAD)
TATATAT=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.105087291_105087297dup, NC_000007.13:g.104727738_104727744dup, NG_033949.1:g.78102_78108dup

Select item 14914505647.

rs1491450564 has merged into rs34102092 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 7:105107973 (GRCh38)
7:104748420 (GRCh37)
Canonical SPDI:: NC_000007.14:105107960:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:105107960:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:105107960:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:105107960:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:105107960:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:105107960:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:105107960:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:105107960:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: KMT2E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.2971/1488 (1000Genomes)
HGVS:: NC_000007.14:g.105107973_105107975del, NC_000007.14:g.105107974_105107975del, NC_000007.14:g.105107975del, NC_000007.14:g.105107975dup, NC_000007.14:g.105107974_105107975dup, NC_000007.14:g.105107973_105107975dup, NC_000007.14:g.105107972_105107975dup, NC_000007.14:g.105107971_105107975dup, NC_000007.13:g.104748420_104748422del, NC_000007.13:g.104748421_104748422del, NC_000007.13:g.104748422del, NC_000007.13:g.104748422dup, NC_000007.13:g.104748421_104748422dup, NC_000007.13:g.104748420_104748422dup, NC_000007.13:g.104748419_104748422dup, NC_000007.13:g.104748418_104748422dup, NG_033949.1:g.98784_98786del, NG_033949.1:g.98785_98786del, NG_033949.1:g.98786del, NG_033949.1:g.98786dup, NG_033949.1:g.98785_98786dup, NG_033949.1:g.98784_98786dup, NG_033949.1:g.98783_98786dup, NG_033949.1:g.98782_98786dup

Select item 14914439898.

rs1491443989 has merged into rs11330758 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:105096258 (GRCh38)
7:104736705 (GRCh37)
Canonical SPDI:: NC_000007.14:105096247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:105096247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:105096247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:105096247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:105096247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:105096247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:105096247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:105096247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:105096247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:105096247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:105096247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:105096247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:105096247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:105096247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:105096247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:105096247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:105096247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:105096247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:105096247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:105096247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:105096247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:105096247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:105096247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:105096247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:105096247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:105096247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:105096247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:105096247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:105096247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:105096247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:105096247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: KMT2E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.000011/3 (TOPMED)
A=0.227436/1139 (1000Genomes)
HGVS:: NC_000007.14:g.105096258_105096271del, NC_000007.14:g.105096259_105096271del, NC_000007.14:g.105096260_105096271del, NC_000007.14:g.105096261_105096271del, NC_000007.14:g.105096262_105096271del, NC_000007.14:g.105096263_105096271del, NC_000007.14:g.105096264_105096271del, NC_000007.14:g.105096265_105096271del, NC_000007.14:g.105096266_105096271del, NC_000007.14:g.105096267_105096271del, NC_000007.14:g.105096268_105096271del, NC_000007.14:g.105096269_105096271del, NC_000007.14:g.105096270_105096271del, NC_000007.14:g.105096271del, NC_000007.14:g.105096271dup, NC_000007.14:g.105096270_105096271dup, NC_000007.14:g.105096269_105096271dup, NC_000007.14:g.105096268_105096271dup, NC_000007.14:g.105096267_105096271dup, NC_000007.14:g.105096266_105096271dup, NC_000007.14:g.105096265_105096271dup, NC_000007.14:g.105096264_105096271dup, NC_000007.14:g.105096261_105096271dup, NC_000007.14:g.105096260_105096271dup, NC_000007.14:g.105096259_105096271dup, NC_000007.14:g.105096258_105096271dup, NC_000007.14:g.105096253_105096271dup, NC_000007.14:g.105096252_105096271dup, NC_000007.14:g.105096249_105096271dup, NC_000007.14:g.105096271_105096272insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.105096271_105096272insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.104736705_104736718del, NC_000007.13:g.104736706_104736718del, NC_000007.13:g.104736707_104736718del, NC_000007.13:g.104736708_104736718del, NC_000007.13:g.104736709_104736718del, NC_000007.13:g.104736710_104736718del, NC_000007.13:g.104736711_104736718del, NC_000007.13:g.104736712_104736718del, NC_000007.13:g.104736713_104736718del, NC_000007.13:g.104736714_104736718del, NC_000007.13:g.104736715_104736718del, NC_000007.13:g.104736716_104736718del, NC_000007.13:g.104736717_104736718del, NC_000007.13:g.104736718del, NC_000007.13:g.104736718dup, NC_000007.13:g.104736717_104736718dup, NC_000007.13:g.104736716_104736718dup, NC_000007.13:g.104736715_104736718dup, NC_000007.13:g.104736714_104736718dup, NC_000007.13:g.104736713_104736718dup, NC_000007.13:g.104736712_104736718dup, NC_000007.13:g.104736711_104736718dup, NC_000007.13:g.104736708_104736718dup, NC_000007.13:g.104736707_104736718dup, NC_000007.13:g.104736706_104736718dup, NC_000007.13:g.104736705_104736718dup, NC_000007.13:g.104736700_104736718dup, NC_000007.13:g.104736699_104736718dup, NC_000007.13:g.104736696_104736718dup, NC_000007.13:g.104736718_104736719insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.104736718_104736719insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_033949.1:g.87069_87082del, NG_033949.1:g.87070_87082del, NG_033949.1:g.87071_87082del, NG_033949.1:g.87072_87082del, NG_033949.1:g.87073_87082del, NG_033949.1:g.87074_87082del, NG_033949.1:g.87075_87082del, NG_033949.1:g.87076_87082del, NG_033949.1:g.87077_87082del, NG_033949.1:g.87078_87082del, NG_033949.1:g.87079_87082del, NG_033949.1:g.87080_87082del, NG_033949.1:g.87081_87082del, NG_033949.1:g.87082del, NG_033949.1:g.87082dup, NG_033949.1:g.87081_87082dup, NG_033949.1:g.87080_87082dup, NG_033949.1:g.87079_87082dup, NG_033949.1:g.87078_87082dup, NG_033949.1:g.87077_87082dup, NG_033949.1:g.87076_87082dup, NG_033949.1:g.87075_87082dup, NG_033949.1:g.87072_87082dup, NG_033949.1:g.87071_87082dup, NG_033949.1:g.87070_87082dup, NG_033949.1:g.87069_87082dup, NG_033949.1:g.87064_87082dup, NG_033949.1:g.87063_87082dup, NG_033949.1:g.87060_87082dup, NG_033949.1:g.87082_87083insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_033949.1:g.87082_87083insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14914140089.

rs1491414008 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AG [Show Flanks]
Chromosome:: 7:105110656 (GRCh38)
7:104751104 (GRCh37)
Canonical SPDI:: NC_000007.14:105110656:AGAGAG:AGAGAGAG
Gene:: KMT2E (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AGAGAGAG=0./0 (ALFA)
AG=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.105110657AG[4], NC_000007.13:g.104751104AG[4], NG_033949.1:g.101468AG[4]

Select item 149138799910.

rs1491387999 has merged into rs71152940 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:105078668 (GRCh38)
7:104719115 (GRCh37)
Canonical SPDI:: NC_000007.14:105078657:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:105078657:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:105078657:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:105078657:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:105078657:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:105078657:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:105078657:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:105078657:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:105078657:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:105078657:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:105078657:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:105078657:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105078657:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105078657:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105078657:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105078657:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105078657:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105078657:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105078657:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105078657:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105078657:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105078657:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105078657:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105078657:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105078657:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105078657:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105078657:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105078657:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105078657:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105078657:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: KMT2E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000007.14:g.105078668_105078688del, NC_000007.14:g.105078669_105078688del, NC_000007.14:g.105078670_105078688del, NC_000007.14:g.105078671_105078688del, NC_000007.14:g.105078672_105078688del, NC_000007.14:g.105078673_105078688del, NC_000007.14:g.105078674_105078688del, NC_000007.14:g.105078675_105078688del, NC_000007.14:g.105078676_105078688del, NC_000007.14:g.105078677_105078688del, NC_000007.14:g.105078678_105078688del, NC_000007.14:g.105078679_105078688del, NC_000007.14:g.105078680_105078688del, NC_000007.14:g.105078681_105078688del, NC_000007.14:g.105078682_105078688del, NC_000007.14:g.105078683_105078688del, NC_000007.14:g.105078684_105078688del, NC_000007.14:g.105078685_105078688del, NC_000007.14:g.105078686_105078688del, NC_000007.14:g.105078687_105078688del, NC_000007.14:g.105078688del, NC_000007.14:g.105078688dup, NC_000007.14:g.105078687_105078688dup, NC_000007.14:g.105078686_105078688dup, NC_000007.14:g.105078685_105078688dup, NC_000007.14:g.105078684_105078688dup, NC_000007.14:g.105078683_105078688dup, NC_000007.14:g.105078680_105078688dup, NC_000007.14:g.105078663_105078688dup, NC_000007.14:g.105078660_105078688dup, NC_000007.13:g.104719115_104719135del, NC_000007.13:g.104719116_104719135del, NC_000007.13:g.104719117_104719135del, NC_000007.13:g.104719118_104719135del, NC_000007.13:g.104719119_104719135del, NC_000007.13:g.104719120_104719135del, NC_000007.13:g.104719121_104719135del, NC_000007.13:g.104719122_104719135del, NC_000007.13:g.104719123_104719135del, NC_000007.13:g.104719124_104719135del, NC_000007.13:g.104719125_104719135del, NC_000007.13:g.104719126_104719135del, NC_000007.13:g.104719127_104719135del, NC_000007.13:g.104719128_104719135del, NC_000007.13:g.104719129_104719135del, NC_000007.13:g.104719130_104719135del, NC_000007.13:g.104719131_104719135del, NC_000007.13:g.104719132_104719135del, NC_000007.13:g.104719133_104719135del, NC_000007.13:g.104719134_104719135del, NC_000007.13:g.104719135del, NC_000007.13:g.104719135dup, NC_000007.13:g.104719134_104719135dup, NC_000007.13:g.104719133_104719135dup, NC_000007.13:g.104719132_104719135dup, NC_000007.13:g.104719131_104719135dup, NC_000007.13:g.104719130_104719135dup, NC_000007.13:g.104719127_104719135dup, NC_000007.13:g.104719110_104719135dup, NC_000007.13:g.104719107_104719135dup, NG_033949.1:g.69479_69499del, NG_033949.1:g.69480_69499del, NG_033949.1:g.69481_69499del, NG_033949.1:g.69482_69499del, NG_033949.1:g.69483_69499del, NG_033949.1:g.69484_69499del, NG_033949.1:g.69485_69499del, NG_033949.1:g.69486_69499del, NG_033949.1:g.69487_69499del, NG_033949.1:g.69488_69499del, NG_033949.1:g.69489_69499del, NG_033949.1:g.69490_69499del, NG_033949.1:g.69491_69499del, NG_033949.1:g.69492_69499del, NG_033949.1:g.69493_69499del, NG_033949.1:g.69494_69499del, NG_033949.1:g.69495_69499del, NG_033949.1:g.69496_69499del, NG_033949.1:g.69497_69499del, NG_033949.1:g.69498_69499del, NG_033949.1:g.69499del, NG_033949.1:g.69499dup, NG_033949.1:g.69498_69499dup, NG_033949.1:g.69497_69499dup, NG_033949.1:g.69496_69499dup, NG_033949.1:g.69495_69499dup, NG_033949.1:g.69494_69499dup, NG_033949.1:g.69491_69499dup, NG_033949.1:g.69474_69499dup, NG_033949.1:g.69471_69499dup

Select item 149138266611.

rs1491382666 has merged into rs34674654 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 7:105098247 (GRCh38)
7:104738694 (GRCh37)
Canonical SPDI:: NC_000007.14:105098234:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:105098234:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:105098234:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:105098234:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:105098234:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:105098234:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:105098234:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:105098234:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: KMT2E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.3756/1881 (1000Genomes)
HGVS:: NC_000007.14:g.105098247_105098251del, NC_000007.14:g.105098248_105098251del, NC_000007.14:g.105098249_105098251del, NC_000007.14:g.105098250_105098251del, NC_000007.14:g.105098251del, NC_000007.14:g.105098251dup, NC_000007.14:g.105098250_105098251dup, NC_000007.14:g.105098249_105098251dup, NC_000007.13:g.104738694_104738698del, NC_000007.13:g.104738695_104738698del, NC_000007.13:g.104738696_104738698del, NC_000007.13:g.104738697_104738698del, NC_000007.13:g.104738698del, NC_000007.13:g.104738698dup, NC_000007.13:g.104738697_104738698dup, NC_000007.13:g.104738696_104738698dup, NG_033949.1:g.89058_89062del, NG_033949.1:g.89059_89062del, NG_033949.1:g.89060_89062del, NG_033949.1:g.89061_89062del, NG_033949.1:g.89062del, NG_033949.1:g.89062dup, NG_033949.1:g.89061_89062dup, NG_033949.1:g.89060_89062dup

Select item 149135692912.

rs1491356929 has merged into rs869055986 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:105071621 (GRCh38)
7:104712068 (GRCh37)
Canonical SPDI:: NC_000007.14:105071608:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:105071608:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:105071608:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:105071608:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:105071608:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:105071608:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:105071608:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:105071608:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:105071608:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:105071608:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105071608:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105071608:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105071608:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105071608:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105071608:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105071608:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105071608:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105071608:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105071608:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105071608:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105071608:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105071608:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:105071608:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: KMT2E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000007.14:g.105071621_105071636del, NC_000007.14:g.105071622_105071636del, NC_000007.14:g.105071623_105071636del, NC_000007.14:g.105071624_105071636del, NC_000007.14:g.105071625_105071636del, NC_000007.14:g.105071626_105071636del, NC_000007.14:g.105071627_105071636del, NC_000007.14:g.105071628_105071636del, NC_000007.14:g.105071629_105071636del, NC_000007.14:g.105071630_105071636del, NC_000007.14:g.105071631_105071636del, NC_000007.14:g.105071632_105071636del, NC_000007.14:g.105071633_105071636del, NC_000007.14:g.105071634_105071636del, NC_000007.14:g.105071635_105071636del, NC_000007.14:g.105071636del, NC_000007.14:g.105071636dup, NC_000007.14:g.105071635_105071636dup, NC_000007.14:g.105071634_105071636dup, NC_000007.14:g.105071633_105071636dup, NC_000007.14:g.105071632_105071636dup, NC_000007.14:g.105071631_105071636dup, NC_000007.14:g.105071629_105071636dup, NC_000007.13:g.104712068_104712083del, NC_000007.13:g.104712069_104712083del, NC_000007.13:g.104712070_104712083del, NC_000007.13:g.104712071_104712083del, NC_000007.13:g.104712072_104712083del, NC_000007.13:g.104712073_104712083del, NC_000007.13:g.104712074_104712083del, NC_000007.13:g.104712075_104712083del, NC_000007.13:g.104712076_104712083del, NC_000007.13:g.104712077_104712083del, NC_000007.13:g.104712078_104712083del, NC_000007.13:g.104712079_104712083del, NC_000007.13:g.104712080_104712083del, NC_000007.13:g.104712081_104712083del, NC_000007.13:g.104712082_104712083del, NC_000007.13:g.104712083del, NC_000007.13:g.104712083dup, NC_000007.13:g.104712082_104712083dup, NC_000007.13:g.104712081_104712083dup, NC_000007.13:g.104712080_104712083dup, NC_000007.13:g.104712079_104712083dup, NC_000007.13:g.104712078_104712083dup, NC_000007.13:g.104712076_104712083dup, NG_033949.1:g.62432_62447del, NG_033949.1:g.62433_62447del, NG_033949.1:g.62434_62447del, NG_033949.1:g.62435_62447del, NG_033949.1:g.62436_62447del, NG_033949.1:g.62437_62447del, NG_033949.1:g.62438_62447del, NG_033949.1:g.62439_62447del, NG_033949.1:g.62440_62447del, NG_033949.1:g.62441_62447del, NG_033949.1:g.62442_62447del, NG_033949.1:g.62443_62447del, NG_033949.1:g.62444_62447del, NG_033949.1:g.62445_62447del, NG_033949.1:g.62446_62447del, NG_033949.1:g.62447del, NG_033949.1:g.62447dup, NG_033949.1:g.62446_62447dup, NG_033949.1:g.62445_62447dup, NG_033949.1:g.62444_62447dup, NG_033949.1:g.62443_62447dup, NG_033949.1:g.62442_62447dup, NG_033949.1:g.62440_62447dup

Select item 149132538413.

rs1491325384 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:105032073 (GRCh38)
7:104672520 (GRCh37)
Canonical SPDI:: NC_000007.14:105032070:CACA:CA
Gene:: KMT2E (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CACA=0./0 (ALFA)
HGVS:: NC_000007.14:g.105032071CA[1], NC_000007.13:g.104672518CA[1], NG_033949.1:g.22882CA[1]

Select item 149129637514.

rs1491296375 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 7:105078657 (GRCh38)
7:104719104 (GRCh37)
Canonical SPDI:: NC_000007.14:105078656:CT:
Gene:: KMT2E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000007.14:g.105078657_105078658del, NC_000007.13:g.104719104_104719105del, NG_033949.1:g.69468_69469del

Select item 149128802215.

rs1491288022 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:105096247 (GRCh38)
7:104736694 (GRCh37)
Canonical SPDI:: NC_000007.14:105096246:CA:
Gene:: KMT2E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00067/19 (TOMMO)
HGVS:: NC_000007.14:g.105096247_105096248del, NC_000007.13:g.104736694_104736695del, NG_033949.1:g.87058_87059del

Select item 149124719916.

rs1491247199 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:105070632 (GRCh38)
7:104711079 (GRCh37)
Canonical SPDI:: NC_000007.14:105070631:CA:
Gene:: KMT2E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00556/66 (ALFA)
-=0.00015/8 (GnomAD)
HGVS:: NC_000007.14:g.105070632_105070633del, NC_000007.13:g.104711079_104711080del, NG_033949.1:g.61443_61444del

Select item 149123156117.

rs1491231561 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 7:105087822 (GRCh38)
7:104728269 (GRCh37)
Canonical SPDI:: NC_000007.14:105087821:GC:
Gene:: KMT2E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00008/1 (ALFA)
-=0.00502/3 (NorthernSweden)
HGVS:: NC_000007.14:g.105087822_105087823del, NC_000007.13:g.104728269_104728270del, NG_033949.1:g.78633_78634del

Select item 149122378618.

rs1491223786 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 7:105041049 (GRCh38)
7:104681496 (GRCh37)
Canonical SPDI:: NC_000007.14:105041048:GC:
Gene:: KMT2E (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.00009/3 (ExAC)
-=0.00021/4 (TOMMO)
HGVS:: NC_000007.14:g.105041049_105041050del, NC_000007.13:g.104681496_104681497del, NG_033949.1:g.31860_31861del

Select item 149118319419.

rs1491183194 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 7:105096726 (GRCh38)
7:104737173 (GRCh37)
Canonical SPDI:: NC_000007.14:105096724:ATA:A
Gene:: KMT2E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.105096726_105096727del, NC_000007.13:g.104737173_104737174del, NG_033949.1:g.87537_87538del

Select item 149115131120.

rs1491151311 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->AATATAATAAT
Chromosome:: no mapping
Canonical SPDI:

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