Canonical Allele Identifier: CA1948292238

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2731401_2731407delinsGTGTGTC , CM000673.2:g.2731401_2731407delinsGTGTGTC	GRCh38
NC_000011.9:g.2752631_2752637delinsGTGTGTC , CM000673.1:g.2752631_2752637delinsGTGTGTC	GRCh37
NC_000011.8:g.2709207_2709213delinsGTGTGTC	NCBI36
NG_008935.1:g.291411_291417delinsGTGTGTC , LRG_287:g.291411_291417delinsGTGTGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1158-37443_1158-37437delinsGTGTGTC	ENSP00000434560.2:n.1158-37443_1158-37437delinsGTGTGTC
ENST00000646564.2:c.975-37443_975-37437delinsGTGTGTC	ENSP00000495806.2:n.975-37443_975-37437delinsGTGTGTC
ENST00000155840.12:c.1515-37443_1515-37437delinsGTGTGTC MANE Select	ENSP00000155840.2:n.1515-37443_1515-37437delinsGTGTGTC
ENST00000335475.6:c.1134-37443_1134-37437delinsGTGTGTC	ENSP00000334497.5:n.1134-37443_1134-37437delinsGTGTGTC
ENST00000646564.1:c.621-37443_621-37437delinsGTGTGTC	ENSP00000495806.1:n.621-37443_621-37437delinsGTGTGTC
ENST00000155840.9:c.1515-37443_1515-37437delinsGTGTGTC	ENSP00000155840.2:n.1515-37443_1515-37437delinsGTGTGTC
ENST00000335475.5:c.1134-37443_1134-37437delinsGTGTGTC	ENSP00000334497.5:n.1134-37443_1134-37437delinsGTGTGTC
NM_000218.2:c.1515-37443_1515-37437delinsGTGTGTC , LRG_287t1:c.1515-37443_1515-37437delinsGTGTGTC	NP_000209.2:n.1515-37443_1515-37437delinsGTGTGTC
NM_181798.1:c.1134-37443_1134-37437delinsGTGTGTC , LRG_287t2:c.1134-37443_1134-37437delinsGTGTGTC	NP_861463.1:n.1134-37443_1134-37437delinsGTGTGTC
NM_000218.3:c.1515-37443_1515-37437delinsGTGTGTC MANE Select	NP_000209.2:n.1515-37443_1515-37437delinsGTGTGTC