Canonical Allele Identifier: CA1948292231

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2731382_2731391delinsAGTCTGGCAC , CM000673.2:g.2731382_2731391delinsAGTCTGGCAC	GRCh38
NC_000011.9:g.2752612_2752621delinsAGTCTGGCAC , CM000673.1:g.2752612_2752621delinsAGTCTGGCAC	GRCh37
NC_000011.8:g.2709188_2709197delinsAGTCTGGCAC	NCBI36
NG_008935.1:g.291392_291401delinsAGTCTGGCAC , LRG_287:g.291392_291401delinsAGTCTGGCAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1158-37462_1158-37453delinsAGTCTGGCAC	ENSP00000434560.2:n.1158-37462_1158-37453...
ENST00000646564.2:c.975-37462_975-37453delinsAGTCTGGCAC	ENSP00000495806.2:n.975-37462_975-37453de...
ENST00000155840.12:c.1515-37462_1515-37453delinsAGTCTGGCAC MANE Select	ENSP00000155840.2:n.1515-37462_1515-37453...
ENST00000335475.6:c.1134-37462_1134-37453delinsAGTCTGGCAC	ENSP00000334497.5:n.1134-37462_1134-37453...
ENST00000646564.1:c.621-37462_621-37453delinsAGTCTGGCAC	ENSP00000495806.1:n.621-37462_621-37453de...
ENST00000155840.9:c.1515-37462_1515-37453delinsAGTCTGGCAC	ENSP00000155840.2:n.1515-37462_1515-37453...
ENST00000335475.5:c.1134-37462_1134-37453delinsAGTCTGGCAC	ENSP00000334497.5:n.1134-37462_1134-37453...
NM_000218.2:c.1515-37462_1515-37453delinsAGTCTGGCAC , LRG_287t1:c.1515-37462_1515-37453delinsAGTCTGGCAC	NP_000209.2:n.1515-37462_1515-37453delins...
NM_181798.1:c.1134-37462_1134-37453delinsAGTCTGGCAC , LRG_287t2:c.1134-37462_1134-37453delinsAGTCTGGCAC	NP_861463.1:n.1134-37462_1134-37453delins...
NM_000218.3:c.1515-37462_1515-37453delinsAGTCTGGCAC MANE Select	NP_000209.2:n.1515-37462_1515-37453delins...