Canonical Allele Identifier: CA1948225043

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583519_2583520delinsGC , CM000673.2:g.2583519_2583520delinsGC	GRCh38
NC_000011.9:g.2604749_2604750delinsGC , CM000673.1:g.2604749_2604750delinsGC	GRCh37
NC_000011.8:g.2561325_2561326delinsGC	NCBI36
NG_008935.1:g.143529_143530delinsGC , LRG_287:g.143529_143530delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.745_746delinsGC	ENSP00000434560.2:p.Ala249=
ENST00000646564.2:c.562_563delinsGC	ENSP00000495806.2:p.Ala188=
ENST00000155840.12:c.1006_1007delinsGC MANE Select	ENSP00000155840.2:p.Ala336=
ENST00000335475.6:c.625_626delinsGC	ENSP00000334497.5:p.Ala209=
ENST00000646564.1:c.208_209delinsGC	ENSP00000495806.1:p.Ala70=
ENST00000155840.9:c.1006_1007delinsGC	ENSP00000155840.2:p.Ala336=
ENST00000335475.5:c.625_626delinsGC	ENSP00000334497.5:p.Ala209=
NM_000218.2:c.1006_1007delinsGC , LRG_287t1:c.1006_1007delinsGC	NP_000209.2:p.Ala336=
NM_181798.1:c.625_626delinsGC , LRG_287t2:c.625_626delinsGC	NP_861463.1:p.Ala209=
NM_000218.3:c.1006_1007delinsGC MANE Select	NP_000209.2:p.Ala336=