Canonical Allele Identifier: CA1948273273

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2702467_2702471delinsTGTTG , CM000673.2:g.2702467_2702471delinsTGTTG	GRCh38
NC_000011.9:g.2723697_2723701delinsTGTTG , CM000673.1:g.2723697_2723701delinsTGTTG	GRCh37
NC_000011.8:g.2680273_2680277delinsTGTTG	NCBI36
NG_008935.1:g.262477_262481delinsTGTTG , LRG_287:g.262477_262481delinsTGTTG
NG_016178.2:g.2528_2532delinsCAACA

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1157+40386_1157+40390delinsTGTTG	ENSP00000434560.2:n.1157+40386_1157+40390delinsTGTTG
ENST00000646564.2:c.974+40386_974+40390delinsTGTTG	ENSP00000495806.2:n.974+40386_974+40390delinsTGTTG
ENST00000155840.12:c.1514+40386_1514+40390delinsTGTTG MANE Select	ENSP00000155840.2:n.1514+40386_1514+40390delinsTGTTG
ENST00000335475.6:c.1133+40386_1133+40390delinsTGTTG	ENSP00000334497.5:n.1133+40386_1133+40390delinsTGTTG
ENST00000646564.1:c.620+40386_620+40390delinsTGTTG	ENSP00000495806.1:n.620+40386_620+40390delinsTGTTG
ENST00000155840.9:c.1514+40386_1514+40390delinsTGTTG	ENSP00000155840.2:n.1514+40386_1514+40390delinsTGTTG
ENST00000335475.5:c.1133+40386_1133+40390delinsTGTTG	ENSP00000334497.5:n.1133+40386_1133+40390delinsTGTTG
NM_000218.2:c.1514+40386_1514+40390delinsTGTTG , LRG_287t1:c.1514+40386_1514+40390delinsTGTTG	NP_000209.2:n.1514+40386_1514+40390delinsTGTTG
NM_181798.1:c.1133+40386_1133+40390delinsTGTTG , LRG_287t2:c.1133+40386_1133+40390delinsTGTTG	NP_861463.1:n.1133+40386_1133+40390delinsTGTTG
NM_000218.3:c.1514+40386_1514+40390delinsTGTTG MANE Select	NP_000209.2:n.1514+40386_1514+40390delinsTGTTG