Canonical Allele Identifier: CA2612003160

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2528169-A-ACTT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2528169_2528170insCTT , CM000673.2:g.2528169_2528170insCTT	GRCh38
NC_000011.9:g.2549399_2549400insCTT , CM000673.1:g.2549399_2549400insCTT	GRCh37
NC_000011.8:g.2505975_2505976insCTT	NCBI36
NG_008935.1:g.88179_88180insCTT , LRG_287:g.88179_88180insCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.216+151_216+152insCTT	ENSP00000434560.2:n.216+151_216+152insCTT
ENST00000646564.2:c.477+151_477+152insCTT	ENSP00000495806.2:n.477+151_477+152insCTT
ENST00000155840.12:c.477+151_477+152insCTT MANE Select	ENSP00000155840.2:n.477+151_477+152insCTT
ENST00000335475.6:c.96+151_96+152insCTT	ENSP00000334497.5:n.96+151_96+152insCTT
ENST00000646564.1:c.123+151_123+152insCTT	ENSP00000495806.1:n.123+151_123+152insCTT
ENST00000155840.9:c.477+151_477+152insCTT	ENSP00000155840.2:n.477+151_477+152insCTT
ENST00000335475.5:c.96+151_96+152insCTT	ENSP00000334497.5:n.96+151_96+152insCTT
ENST00000496887.6:c.216+151_216+152insCTT	ENSP00000434560.1:n.216+151_216+152insCTT
NM_000218.2:c.477+151_477+152insCTT , LRG_287t1:c.477+151_477+152insCTT	NP_000209.2:n.477+151_477+152insCTT
NM_181798.1:c.96+151_96+152insCTT , LRG_287t2:c.96+151_96+152insCTT	NP_861463.1:n.96+151_96+152insCTT
NM_000218.3:c.477+151_477+152insCTT MANE Select	NP_000209.2:n.477+151_477+152insCTT