Canonical Allele Identifier: CA2574728419

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2775902del , CM000673.2:g.2775902del	GRCh38
NC_000011.9:g.2797132del , CM000673.1:g.2797132del	GRCh37
NC_000011.8:g.2753708del	NCBI36
NG_008935.1:g.335912del , LRG_287:g.335912del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1234-58del	ENSP00000434560.2:n.1234-58del
ENST00000646564.2:c.1051-58del	ENSP00000495806.2:n.1051-58del
ENST00000155840.12:c.1591-58del MANE Select	ENSP00000155840.2:n.1591-58del
ENST00000335475.6:c.1210-58del	ENSP00000334497.5:n.1210-58del
ENST00000646564.1:c.697-58del	ENSP00000495806.1:n.697-58del
ENST00000155840.9:c.1591-58del	ENSP00000155840.2:n.1591-58del
ENST00000335475.5:c.1210-58del	ENSP00000334497.5:n.1210-58del
NM_000218.2:c.1591-58del , LRG_287t1:c.1591-58del	NP_000209.2:n.1591-58del
NM_181798.1:c.1210-58del , LRG_287t2:c.1210-58del	NP_861463.1:n.1210-58del
NM_000218.3:c.1591-58del MANE Select	NP_000209.2:n.1591-58del