Canonical Allele Identifier: CA1948242458

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2571955_2571956delinsCG , CM000673.2:g.2571955_2571956delinsCG	GRCh38
NC_000011.9:g.2593185_2593186delinsCG , CM000673.1:g.2593185_2593186delinsCG	GRCh37
NC_000011.8:g.2549761_2549762delinsCG	NCBI36
NG_008935.1:g.131965_131966delinsCG , LRG_287:g.131965_131966delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.423-58_423-57delinsCG	ENSP00000434560.2:n.423-58_423-57delinsCG
ENST00000646564.2:c.478-11480_478-11479delinsCG	ENSP00000495806.2:n.478-11480_478-11479delinsCG
ENST00000155840.12:c.684-58_684-57delinsCG MANE Select	ENSP00000155840.2:n.684-58_684-57delinsCG
ENST00000335475.6:c.303-58_303-57delinsCG	ENSP00000334497.5:n.303-58_303-57delinsCG
ENST00000646564.1:c.124-11480_124-11479delinsCG	ENSP00000495806.1:n.124-11480_124-11479delinsCG
ENST00000155840.9:c.684-58_684-57delinsCG	ENSP00000155840.2:n.684-58_684-57delinsCG
ENST00000335475.5:c.303-58_303-57delinsCG	ENSP00000334497.5:n.303-58_303-57delinsCG
ENST00000496887.6:c.423-58_423-57delinsCG	ENSP00000434560.1:n.423-58_423-57delinsCG
NM_000218.2:c.684-58_684-57delinsCG , LRG_287t1:c.684-58_684-57delinsCG	NP_000209.2:n.684-58_684-57delinsCG
NM_181798.1:c.303-58_303-57delinsCG , LRG_287t2:c.303-58_303-57delinsCG	NP_861463.1:n.303-58_303-57delinsCG
NM_000218.3:c.684-58_684-57delinsCG MANE Select	NP_000209.2:n.684-58_684-57delinsCG