Canonical Allele Identifier: CA1948212518

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572995_2572996delinsGA , CM000673.2:g.2572995_2572996delinsGA	GRCh38
NC_000011.9:g.2594225_2594226delinsGA , CM000673.1:g.2594225_2594226delinsGA	GRCh37
NC_000011.8:g.2550801_2550802delinsGA	NCBI36
NG_008935.1:g.133005_133006delinsGA , LRG_287:g.133005_133006delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.660+9_660+10delinsGA	ENSP00000434560.2:n.660+9_660+10delinsGA
ENST00000646564.2:c.478-10440_478-10439delinsGA	ENSP00000495806.2:n.478-10440_478-10439delinsGA
ENST00000155840.12:c.921+9_921+10delinsGA MANE Select	ENSP00000155840.2:n.921+9_921+10delinsGA
ENST00000335475.6:c.540+9_540+10delinsGA	ENSP00000334497.5:n.540+9_540+10delinsGA
ENST00000646564.1:c.124-10440_124-10439delinsGA	ENSP00000495806.1:n.124-10440_124-10439delinsGA
ENST00000155840.9:c.921+9_921+10delinsGA	ENSP00000155840.2:n.921+9_921+10delinsGA
ENST00000335475.5:c.540+9_540+10delinsGA	ENSP00000334497.5:n.540+9_540+10delinsGA
NM_000218.2:c.921+9_921+10delinsGA , LRG_287t1:c.921+9_921+10delinsGA	NP_000209.2:n.921+9_921+10delinsGA
NM_181798.1:c.540+9_540+10delinsGA , LRG_287t2:c.540+9_540+10delinsGA	NP_861463.1:n.540+9_540+10delinsGA
NM_000218.3:c.921+9_921+10delinsGA MANE Select	NP_000209.2:n.921+9_921+10delinsGA