Canonical Allele Identifier: CA2521225249

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768651_2768652insTTTTTTA , CM000673.2:g.2768651_2768652insTTTTTTA	GRCh38
NC_000011.9:g.2789881_2789882insTTTTTTA , CM000673.1:g.2789881_2789882insTTTTTTA	GRCh37
NC_000011.8:g.2746457_2746458insTTTTTTA	NCBI36
NG_008935.1:g.328661_328662insTTTTTTA , LRG_287:g.328661_328662insTTTTTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1158-193_1158-192insTTTTTTA	ENSP00000434560.2:n.1158-193_1158-192insTTTTTTA
ENST00000646564.2:c.975-193_975-192insTTTTTTA	ENSP00000495806.2:n.975-193_975-192insTTTTTTA
ENST00000155840.12:c.1515-193_1515-192insTTTTTTA MANE Select	ENSP00000155840.2:n.1515-193_1515-192insTTTTTTA
ENST00000335475.6:c.1134-193_1134-192insTTTTTTA	ENSP00000334497.5:n.1134-193_1134-192insTTTTTTA
ENST00000646564.1:c.621-193_621-192insTTTTTTA	ENSP00000495806.1:n.621-193_621-192insTTTTTTA
ENST00000155840.9:c.1515-193_1515-192insTTTTTTA	ENSP00000155840.2:n.1515-193_1515-192insTTTTTTA
ENST00000335475.5:c.1134-193_1134-192insTTTTTTA	ENSP00000334497.5:n.1134-193_1134-192insTTTTTTA
NM_000218.2:c.1515-193_1515-192insTTTTTTA , LRG_287t1:c.1515-193_1515-192insTTTTTTA	NP_000209.2:n.1515-193_1515-192insTTTTTTA
NM_181798.1:c.1134-193_1134-192insTTTTTTA , LRG_287t2:c.1134-193_1134-192insTTTTTTA	NP_861463.1:n.1134-193_1134-192insTTTTTTA
NM_000218.3:c.1515-193_1515-192insTTTTTTA MANE Select	NP_000209.2:n.1515-193_1515-192insTTTTTTA