Canonical Allele Identifier: CA1948273262

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2702450_2702452delinsTAA , CM000673.2:g.2702450_2702452delinsTAA	GRCh38
NC_000011.9:g.2723680_2723682delinsTAA , CM000673.1:g.2723680_2723682delinsTAA	GRCh37
NC_000011.8:g.2680256_2680258delinsTAA	NCBI36
NG_008935.1:g.262460_262462delinsTAA , LRG_287:g.262460_262462delinsTAA
NG_016178.2:g.2547_2549delinsTTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1157+40369_1157+40371delinsTAA	ENSP00000434560.2:n.1157+40369_1157+40371delinsTAA
ENST00000646564.2:c.974+40369_974+40371delinsTAA	ENSP00000495806.2:n.974+40369_974+40371delinsTAA
ENST00000155840.12:c.1514+40369_1514+40371delinsTAA MANE Select	ENSP00000155840.2:n.1514+40369_1514+40371delinsTAA
ENST00000335475.6:c.1133+40369_1133+40371delinsTAA	ENSP00000334497.5:n.1133+40369_1133+40371delinsTAA
ENST00000646564.1:c.620+40369_620+40371delinsTAA	ENSP00000495806.1:n.620+40369_620+40371delinsTAA
ENST00000155840.9:c.1514+40369_1514+40371delinsTAA	ENSP00000155840.2:n.1514+40369_1514+40371delinsTAA
ENST00000335475.5:c.1133+40369_1133+40371delinsTAA	ENSP00000334497.5:n.1133+40369_1133+40371delinsTAA
NM_000218.2:c.1514+40369_1514+40371delinsTAA , LRG_287t1:c.1514+40369_1514+40371delinsTAA	NP_000209.2:n.1514+40369_1514+40371delinsTAA
NM_181798.1:c.1133+40369_1133+40371delinsTAA , LRG_287t2:c.1133+40369_1133+40371delinsTAA	NP_861463.1:n.1133+40369_1133+40371delinsTAA
NM_000218.3:c.1514+40369_1514+40371delinsTAA MANE Select	NP_000209.2:n.1514+40369_1514+40371delinsTAA