Canonical Allele Identifier: CA2573050738

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2585210del , CM000673.2:g.2585210del	GRCh38
NC_000011.9:g.2606440del , CM000673.1:g.2606440del	GRCh37
NC_000011.8:g.2563016del	NCBI36
NG_008935.1:g.145220del , LRG_287:g.145220del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.771+1665del	ENSP00000434560.2:n.771+1665del
ENST00000646564.2:c.588+1665del	ENSP00000495806.2:n.588+1665del
ENST00000155840.12:c.1033-2del MANE Select	ENSP00000155840.2:n.1033-2del
ENST00000335475.6:c.652-2del	ENSP00000334497.5:n.652-2del
ENST00000646564.1:c.234+1665del	ENSP00000495806.1:n.234+1665del
ENST00000155840.9:c.1033-2del	ENSP00000155840.2:n.1033-2del
ENST00000335475.5:c.652-2del	ENSP00000334497.5:n.652-2del
NM_000218.2:c.1033-2del , LRG_287t1:c.1033-2del	NP_000209.2:n.1033-2del
NM_181798.1:c.652-2del , LRG_287t2:c.652-2del	NP_861463.1:n.652-2del
NM_000218.3:c.1033-2del MANE Select	NP_000209.2:n.1033-2del