Canonical Allele Identifier: CA1948309866

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768841_2768843delinsCAG , CM000673.2:g.2768841_2768843delinsCAG	GRCh38
NC_000011.9:g.2790071_2790073delinsCAG , CM000673.1:g.2790071_2790073delinsCAG	GRCh37
NC_000011.8:g.2746647_2746649delinsCAG	NCBI36
NG_008935.1:g.328851_328853delinsCAG , LRG_287:g.328851_328853delinsCAG

Transcript Alleles

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