Canonical Allele Identifier: CA2590571977

Gene: KCNQ1

Linked Data

• gnomAD v3: 11-2731278-GCCTCACCGCCCA-G
• gnomAD v4: 11-2731278-GCCTCACCGCCCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2731279_2731290del , CM000673.2:g.2731279_2731290del	GRCh38
NC_000011.9:g.2752509_2752520del , CM000673.1:g.2752509_2752520del	GRCh37
NC_000011.8:g.2709085_2709096del	NCBI36
NG_008935.1:g.291289_291300del , LRG_287:g.291289_291300del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1158-37565_1158-37554del	ENSP00000434560.2:n.1158-37565_1158-37554del
ENST00000646564.2:c.975-37565_975-37554del	ENSP00000495806.2:n.975-37565_975-37554del
ENST00000155840.12:c.1515-37565_1515-37554del MANE Select	ENSP00000155840.2:n.1515-37565_1515-37554del
ENST00000335475.6:c.1134-37565_1134-37554del	ENSP00000334497.5:n.1134-37565_1134-37554del
ENST00000646564.1:c.621-37565_621-37554del	ENSP00000495806.1:n.621-37565_621-37554del
ENST00000155840.9:c.1515-37565_1515-37554del	ENSP00000155840.2:n.1515-37565_1515-37554del
ENST00000335475.5:c.1134-37565_1134-37554del	ENSP00000334497.5:n.1134-37565_1134-37554del
NM_000218.2:c.1515-37565_1515-37554del , LRG_287t1:c.1515-37565_1515-37554del	NP_000209.2:n.1515-37565_1515-37554del
NM_181798.1:c.1134-37565_1134-37554del , LRG_287t2:c.1134-37565_1134-37554del	NP_861463.1:n.1134-37565_1134-37554del
NM_000218.3:c.1515-37565_1515-37554del MANE Select	NP_000209.2:n.1515-37565_1515-37554del