Canonical Allele Identifier: CA1948242276

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2571813_2571814delinsGA , CM000673.2:g.2571813_2571814delinsGA	GRCh38
NC_000011.9:g.2593043_2593044delinsGA , CM000673.1:g.2593043_2593044delinsGA	GRCh37
NC_000011.8:g.2549619_2549620delinsGA	NCBI36
NG_008935.1:g.131823_131824delinsGA , LRG_287:g.131823_131824delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.423-200_423-199delinsGA	ENSP00000434560.2:n.423-200_423-199delinsGA
ENST00000646564.2:c.478-11622_478-11621delinsGA	ENSP00000495806.2:n.478-11622_478-11621delinsGA
ENST00000155840.12:c.684-200_684-199delinsGA MANE Select	ENSP00000155840.2:n.684-200_684-199delinsGA
ENST00000335475.6:c.303-200_303-199delinsGA	ENSP00000334497.5:n.303-200_303-199delinsGA
ENST00000646564.1:c.124-11622_124-11621delinsGA	ENSP00000495806.1:n.124-11622_124-11621delinsGA
ENST00000155840.9:c.684-200_684-199delinsGA	ENSP00000155840.2:n.684-200_684-199delinsGA
ENST00000335475.5:c.303-200_303-199delinsGA	ENSP00000334497.5:n.303-200_303-199delinsGA
ENST00000496887.6:c.423-200_423-199delinsGA	ENSP00000434560.1:n.423-200_423-199delinsGA
NM_000218.2:c.684-200_684-199delinsGA , LRG_287t1:c.684-200_684-199delinsGA	NP_000209.2:n.684-200_684-199delinsGA
NM_181798.1:c.303-200_303-199delinsGA , LRG_287t2:c.303-200_303-199delinsGA	NP_861463.1:n.303-200_303-199delinsGA
NM_000218.3:c.684-200_684-199delinsGA MANE Select	NP_000209.2:n.684-200_684-199delinsGA