Canonical Allele Identifier: CA1948309894

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768851_2768852delinsGA , CM000673.2:g.2768851_2768852delinsGA	GRCh38
NC_000011.9:g.2790081_2790082delinsGA , CM000673.1:g.2790081_2790082delinsGA	GRCh37
NC_000011.8:g.2746657_2746658delinsGA	NCBI36
NG_008935.1:g.328861_328862delinsGA , LRG_287:g.328861_328862delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1165_1166delinsGA	ENSP00000434560.2:p.Glu389=
ENST00000646564.2:c.982_983delinsGA	ENSP00000495806.2:p.Glu328=
ENST00000155840.12:c.1522_1523delinsGA MANE Select	ENSP00000155840.2:p.Glu508=
ENST00000335475.6:c.1141_1142delinsGA	ENSP00000334497.5:p.Glu381=
ENST00000646564.1:c.628_629delinsGA	ENSP00000495806.1:p.Glu210=
ENST00000155840.9:c.1522_1523delinsGA	ENSP00000155840.2:p.Glu508=
ENST00000335475.5:c.1141_1142delinsGA	ENSP00000334497.5:p.Glu381=
NM_000218.2:c.1522_1523delinsGA , LRG_287t1:c.1522_1523delinsGA	NP_000209.2:p.Glu508=
NM_181798.1:c.1141_1142delinsGA , LRG_287t2:c.1141_1142delinsGA	NP_861463.1:p.Glu381=
NM_000218.3:c.1522_1523delinsGA MANE Select	NP_000209.2:p.Glu508=