Canonical Allele Identifier: CA2612008403

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2768727-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768731_2768732del , CM000673.2:g.2768731_2768732del	GRCh38
NC_000011.9:g.2789961_2789962del , CM000673.1:g.2789961_2789962del	GRCh37
NC_000011.8:g.2746537_2746538del	NCBI36
NG_008935.1:g.328741_328742del , LRG_287:g.328741_328742del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1158-113_1158-112del	ENSP00000434560.2:n.1158-113_1158-112del
ENST00000646564.2:c.975-113_975-112del	ENSP00000495806.2:n.975-113_975-112del
ENST00000155840.12:c.1515-113_1515-112del MANE Select	ENSP00000155840.2:n.1515-113_1515-112del
ENST00000335475.6:c.1134-113_1134-112del	ENSP00000334497.5:n.1134-113_1134-112del
ENST00000646564.1:c.621-113_621-112del	ENSP00000495806.1:n.621-113_621-112del
ENST00000155840.9:c.1515-113_1515-112del	ENSP00000155840.2:n.1515-113_1515-112del
ENST00000335475.5:c.1134-113_1134-112del	ENSP00000334497.5:n.1134-113_1134-112del
NM_000218.2:c.1515-113_1515-112del , LRG_287t1:c.1515-113_1515-112del	NP_000209.2:n.1515-113_1515-112del
NM_181798.1:c.1134-113_1134-112del , LRG_287t2:c.1134-113_1134-112del	NP_861463.1:n.1134-113_1134-112del
NM_000218.3:c.1515-113_1515-112del MANE Select	NP_000209.2:n.1515-113_1515-112del