Canonical Allele Identifier: CA2559203709

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768643_2768644del , CM000673.2:g.2768643_2768644del	GRCh38
NC_000011.9:g.2789873_2789874del , CM000673.1:g.2789873_2789874del	GRCh37
NC_000011.8:g.2746449_2746450del	NCBI36
NG_008935.1:g.328653_328654del , LRG_287:g.328653_328654del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1158-201_1158-200del	ENSP00000434560.2:n.1158-201_1158-200del
ENST00000646564.2:c.975-201_975-200del	ENSP00000495806.2:n.975-201_975-200del
ENST00000155840.12:c.1515-201_1515-200del MANE Select	ENSP00000155840.2:n.1515-201_1515-200del
ENST00000335475.6:c.1134-201_1134-200del	ENSP00000334497.5:n.1134-201_1134-200del
ENST00000646564.1:c.621-201_621-200del	ENSP00000495806.1:n.621-201_621-200del
ENST00000155840.9:c.1515-201_1515-200del	ENSP00000155840.2:n.1515-201_1515-200del
ENST00000335475.5:c.1134-201_1134-200del	ENSP00000334497.5:n.1134-201_1134-200del
NM_000218.2:c.1515-201_1515-200del , LRG_287t1:c.1515-201_1515-200del	NP_000209.2:n.1515-201_1515-200del
NM_181798.1:c.1134-201_1134-200del , LRG_287t2:c.1134-201_1134-200del	NP_861463.1:n.1134-201_1134-200del
NM_000218.3:c.1515-201_1515-200del MANE Select	NP_000209.2:n.1515-201_1515-200del