Canonical Allele Identifier: CA2540492602

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768653_2768655del , CM000673.2:g.2768653_2768655del	GRCh38
NC_000011.9:g.2789883_2789885del , CM000673.1:g.2789883_2789885del	GRCh37
NC_000011.8:g.2746459_2746461del	NCBI36
NG_008935.1:g.328663_328665del , LRG_287:g.328663_328665del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1158-191_1158-189del	ENSP00000434560.2:n.1158-191_1158-189del
ENST00000646564.2:c.975-191_975-189del	ENSP00000495806.2:n.975-191_975-189del
ENST00000155840.12:c.1515-191_1515-189del MANE Select	ENSP00000155840.2:n.1515-191_1515-189del
ENST00000335475.6:c.1134-191_1134-189del	ENSP00000334497.5:n.1134-191_1134-189del
ENST00000646564.1:c.621-191_621-189del	ENSP00000495806.1:n.621-191_621-189del
ENST00000155840.9:c.1515-191_1515-189del	ENSP00000155840.2:n.1515-191_1515-189del
ENST00000335475.5:c.1134-191_1134-189del	ENSP00000334497.5:n.1134-191_1134-189del
NM_000218.2:c.1515-191_1515-189del , LRG_287t1:c.1515-191_1515-189del	NP_000209.2:n.1515-191_1515-189del
NM_181798.1:c.1134-191_1134-189del , LRG_287t2:c.1134-191_1134-189del	NP_861463.1:n.1134-191_1134-189del
NM_000218.3:c.1515-191_1515-189del MANE Select	NP_000209.2:n.1515-191_1515-189del