Canonical Allele Identifier: CA1948273204

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2702371_2702374delinsTGTG , CM000673.2:g.2702371_2702374delinsTGTG	GRCh38
NC_000011.9:g.2723601_2723604delinsTGTG , CM000673.1:g.2723601_2723604delinsTGTG	GRCh37
NC_000011.8:g.2680177_2680180delinsTGTG	NCBI36
NG_008935.1:g.262381_262384delinsTGTG , LRG_287:g.262381_262384delinsTGTG
NG_016178.2:g.2625_2628delinsCACA

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1157+40290_1157+40293delinsTGTG	ENSP00000434560.2:n.1157+40290_1157+40293...
ENST00000646564.2:c.974+40290_974+40293delinsTGTG	ENSP00000495806.2:n.974+40290_974+40293de...
ENST00000155840.12:c.1514+40290_1514+40293delinsTGTG MANE Select	ENSP00000155840.2:n.1514+40290_1514+40293...
ENST00000335475.6:c.1133+40290_1133+40293delinsTGTG	ENSP00000334497.5:n.1133+40290_1133+40293...
ENST00000646564.1:c.620+40290_620+40293delinsTGTG	ENSP00000495806.1:n.620+40290_620+40293de...
ENST00000155840.9:c.1514+40290_1514+40293delinsTGTG	ENSP00000155840.2:n.1514+40290_1514+40293...
ENST00000335475.5:c.1133+40290_1133+40293delinsTGTG	ENSP00000334497.5:n.1133+40290_1133+40293...
NM_000218.2:c.1514+40290_1514+40293delinsTGTG , LRG_287t1:c.1514+40290_1514+40293delinsTGTG	NP_000209.2:n.1514+40290_1514+40293delins...
NM_181798.1:c.1133+40290_1133+40293delinsTGTG , LRG_287t2:c.1133+40290_1133+40293delinsTGTG	NP_861463.1:n.1133+40290_1133+40293delins...
NM_000218.3:c.1514+40290_1514+40293delinsTGTG MANE Select	NP_000209.2:n.1514+40290_1514+40293delins...