Canonical Allele Identifier: CA1948242483

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2571969_2571970delinsGA , CM000673.2:g.2571969_2571970delinsGA	GRCh38
NC_000011.9:g.2593199_2593200delinsGA , CM000673.1:g.2593199_2593200delinsGA	GRCh37
NC_000011.8:g.2549775_2549776delinsGA	NCBI36
NG_008935.1:g.131979_131980delinsGA , LRG_287:g.131979_131980delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.423-44_423-43delinsGA	ENSP00000434560.2:n.423-44_423-43delinsGA
ENST00000646564.2:c.478-11466_478-11465delinsGA	ENSP00000495806.2:n.478-11466_478-11465delinsGA
ENST00000155840.12:c.684-44_684-43delinsGA MANE Select	ENSP00000155840.2:n.684-44_684-43delinsGA
ENST00000335475.6:c.303-44_303-43delinsGA	ENSP00000334497.5:n.303-44_303-43delinsGA
ENST00000646564.1:c.124-11466_124-11465delinsGA	ENSP00000495806.1:n.124-11466_124-11465delinsGA
ENST00000155840.9:c.684-44_684-43delinsGA	ENSP00000155840.2:n.684-44_684-43delinsGA
ENST00000335475.5:c.303-44_303-43delinsGA	ENSP00000334497.5:n.303-44_303-43delinsGA
ENST00000496887.6:c.423-44_423-43delinsGA	ENSP00000434560.1:n.423-44_423-43delinsGA
NM_000218.2:c.684-44_684-43delinsGA , LRG_287t1:c.684-44_684-43delinsGA	NP_000209.2:n.684-44_684-43delinsGA
NM_181798.1:c.303-44_303-43delinsGA , LRG_287t2:c.303-44_303-43delinsGA	NP_861463.1:n.303-44_303-43delinsGA
NM_000218.3:c.684-44_684-43delinsGA MANE Select	NP_000209.2:n.684-44_684-43delinsGA