Canonical Allele Identifier: CA2574728171

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583439_2583440del , CM000673.2:g.2583439_2583440del	GRCh38
NC_000011.9:g.2604669_2604670del , CM000673.1:g.2604669_2604670del	GRCh37
NC_000011.8:g.2561245_2561246del	NCBI36
NG_008935.1:g.143449_143450del , LRG_287:g.143449_143450del

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.665_666del	ENSP00000434560.2:p.Thr222SerfsTer?
ENST00000646564.2:c.482_483del	ENSP00000495806.2:p.Thr161SerfsTer?
ENST00000155840.12:c.926_927del MANE Select	ENSP00000155840.2:p.Thr309SerfsTer?
ENST00000335475.6:c.545_546del	ENSP00000334497.5:p.Thr182SerfsTer?
ENST00000646564.1:c.128_129del	ENSP00000495806.1:p.Thr43SerfsTer?
ENST00000155840.9:c.926_927del	ENSP00000155840.2:p.Thr309SerfsTer?
ENST00000335475.5:c.545_546del	ENSP00000334497.5:p.Thr182SerfsTer?
NM_000218.2:c.926_927del , LRG_287t1:c.926_927del	NP_000209.2:p.Thr309SerfsTer?
NM_181798.1:c.545_546del , LRG_287t2:c.545_546del	NP_861463.1:p.Thr182SerfsTer?
NM_000218.3:c.926_927del MANE Select	NP_000209.2:p.Thr309SerfsTer?