Canonical Allele Identifier: CA2612008695

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2768955-GCCCCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768957_2768961del , CM000673.2:g.2768957_2768961del	GRCh38
NC_000011.9:g.2790187_2790191del , CM000673.1:g.2790187_2790191del	GRCh37
NC_000011.8:g.2746763_2746767del	NCBI36
NG_008935.1:g.328967_328971del , LRG_287:g.328967_328971del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1233+38_1233+42del	ENSP00000434560.2:n.1233+38_1233+42del
ENST00000646564.2:c.1050+38_1050+42del	ENSP00000495806.2:n.1050+38_1050+42del
ENST00000155840.12:c.1590+38_1590+42del MANE Select	ENSP00000155840.2:n.1590+38_1590+42del
ENST00000335475.6:c.1209+38_1209+42del	ENSP00000334497.5:n.1209+38_1209+42del
ENST00000646564.1:c.696+38_696+42del	ENSP00000495806.1:n.696+38_696+42del
ENST00000155840.9:c.1590+38_1590+42del	ENSP00000155840.2:n.1590+38_1590+42del
ENST00000335475.5:c.1209+38_1209+42del	ENSP00000334497.5:n.1209+38_1209+42del
NM_000218.2:c.1590+38_1590+42del , LRG_287t1:c.1590+38_1590+42del	NP_000209.2:n.1590+38_1590+42del
NM_181798.1:c.1209+38_1209+42del , LRG_287t2:c.1209+38_1209+42del	NP_861463.1:n.1209+38_1209+42del
NM_000218.3:c.1590+38_1590+42del MANE Select	NP_000209.2:n.1590+38_1590+42del