Canonical Allele Identifier: CA1948310308

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2769124_2769125delinsTG , CM000673.2:g.2769124_2769125delinsTG	GRCh38
NC_000011.9:g.2790354_2790355delinsTG , CM000673.1:g.2790354_2790355delinsTG	GRCh37
NC_000011.8:g.2746930_2746931delinsTG	NCBI36
NG_008935.1:g.329134_329135delinsTG , LRG_287:g.329134_329135delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1233+205_1233+206delinsTG	ENSP00000434560.2:n.1233+205_1233+206delinsTG
ENST00000646564.2:c.1050+205_1050+206delinsTG	ENSP00000495806.2:n.1050+205_1050+206delinsTG
ENST00000155840.12:c.1590+205_1590+206delinsTG MANE Select	ENSP00000155840.2:n.1590+205_1590+206delinsTG
ENST00000335475.6:c.1209+205_1209+206delinsTG	ENSP00000334497.5:n.1209+205_1209+206delinsTG
ENST00000646564.1:c.696+205_696+206delinsTG	ENSP00000495806.1:n.696+205_696+206delinsTG
ENST00000155840.9:c.1590+205_1590+206delinsTG	ENSP00000155840.2:n.1590+205_1590+206delinsTG
ENST00000335475.5:c.1209+205_1209+206delinsTG	ENSP00000334497.5:n.1209+205_1209+206delinsTG
NM_000218.2:c.1590+205_1590+206delinsTG , LRG_287t1:c.1590+205_1590+206delinsTG	NP_000209.2:n.1590+205_1590+206delinsTG
NM_181798.1:c.1209+205_1209+206delinsTG , LRG_287t2:c.1209+205_1209+206delinsTG	NP_861463.1:n.1209+205_1209+206delinsTG
NM_000218.3:c.1590+205_1590+206delinsTG MANE Select	NP_000209.2:n.1590+205_1590+206delinsTG