Canonical Allele Identifier: CA2612004141

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2572978-TGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572983_2572984del , CM000673.2:g.2572983_2572984del	GRCh38
NC_000011.9:g.2594213_2594214del , CM000673.1:g.2594213_2594214del	GRCh37
NC_000011.8:g.2550789_2550790del	NCBI36
NG_008935.1:g.132993_132994del , LRG_287:g.132993_132994del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.657_658del	ENSP00000434560.2:p.Val220GlyfsTer?
ENST00000646564.2:c.478-10452_478-10451del	ENSP00000495806.2:n.478-10452_478-10451del
ENST00000155840.12:c.918_919del MANE Select	ENSP00000155840.2:p.Val307GlyfsTer?
ENST00000335475.6:c.537_538del	ENSP00000334497.5:p.Val180GlyfsTer?
ENST00000646564.1:c.124-10452_124-10451del	ENSP00000495806.1:n.124-10452_124-10451del
ENST00000155840.9:c.918_919del	ENSP00000155840.2:p.Val307GlyfsTer?
ENST00000335475.5:c.537_538del	ENSP00000334497.5:p.Val180GlyfsTer?
NM_000218.2:c.918_919del , LRG_287t1:c.918_919del	NP_000209.2:p.Val307GlyfsTer?
NM_181798.1:c.537_538del , LRG_287t2:c.537_538del	NP_861463.1:p.Val180GlyfsTer?
NM_000218.3:c.918_919del MANE Select	NP_000209.2:p.Val307GlyfsTer?