Canonical Allele Identifier: CA2695213189

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583536_2583537delinsTT , CM000673.2:g.2583536_2583537delinsTT	GRCh38
NC_000011.9:g.2604766_2604767delinsTT , CM000673.1:g.2604766_2604767delinsTT	GRCh37
NC_000011.8:g.2561342_2561343delinsTT	NCBI36
NG_008935.1:g.143546_143547delinsTT , LRG_287:g.143546_143547delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.762_763delinsTT	ENSP00000434560.2:p.Leu255Phe
ENST00000646564.2:c.579_580delinsTT	ENSP00000495806.2:p.Leu194Phe
ENST00000155840.12:c.1023_1024delinsTT MANE Select	ENSP00000155840.2:p.Leu342Phe
ENST00000335475.6:c.642_643delinsTT	ENSP00000334497.5:p.Leu215Phe
ENST00000646564.1:c.225_226delinsTT	ENSP00000495806.1:p.Leu76Phe
ENST00000155840.9:c.1023_1024delinsTT	ENSP00000155840.2:p.Leu342Phe
ENST00000335475.5:c.642_643delinsTT	ENSP00000334497.5:p.Leu215Phe
NM_000218.2:c.1023_1024delinsTT , LRG_287t1:c.1023_1024delinsTT	NP_000209.2:p.Leu342Phe
NM_181798.1:c.642_643delinsTT , LRG_287t2:c.642_643delinsTT	NP_861463.1:p.Leu215Phe
NM_000218.3:c.1023_1024delinsTT MANE Select	NP_000209.2:p.Leu342Phe