Canonical Allele Identifier: CA1948239316

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570626_2570627delinsAG , CM000673.2:g.2570626_2570627delinsAG	GRCh38
NC_000011.9:g.2591856_2591857delinsAG , CM000673.1:g.2591856_2591857delinsAG	GRCh37
NC_000011.8:g.2548432_2548433delinsAG	NCBI36
NG_008935.1:g.130636_130637delinsAG , LRG_287:g.130636_130637delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.217-2_217-1delinsAG	ENSP00000434560.2:n.217-2_217-1delinsAG
ENST00000646564.2:c.478-12809_478-12808delinsAG	ENSP00000495806.2:n.478-12809_478-12808delinsAG
ENST00000155840.12:c.478-2_478-1delinsAG MANE Select	ENSP00000155840.2:n.478-2_478-1delinsAG
ENST00000335475.6:c.97-2_97-1delinsAG	ENSP00000334497.5:n.97-2_97-1delinsAG
ENST00000646564.1:c.124-12809_124-12808delinsAG	ENSP00000495806.1:n.124-12809_124-12808delinsAG
ENST00000155840.9:c.478-2_478-1delinsAG	ENSP00000155840.2:n.478-2_478-1delinsAG
ENST00000335475.5:c.97-2_97-1delinsAG	ENSP00000334497.5:n.97-2_97-1delinsAG
ENST00000496887.6:c.217-2_217-1delinsAG	ENSP00000434560.1:n.217-2_217-1delinsAG
NM_000218.2:c.478-2_478-1delinsAG , LRG_287t1:c.478-2_478-1delinsAG	NP_000209.2:n.478-2_478-1delinsAG
NM_181798.1:c.97-2_97-1delinsAG , LRG_287t2:c.97-2_97-1delinsAG	NP_861463.1:n.97-2_97-1delinsAG
NM_000218.3:c.478-2_478-1delinsAG MANE Select	NP_000209.2:n.478-2_478-1delinsAG