Canonical Allele Identifier: CA2574728428

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768906del , CM000673.2:g.2768906del	GRCh38
NC_000011.9:g.2790136del , CM000673.1:g.2790136del	GRCh37
NC_000011.8:g.2746712del	NCBI36
NG_008935.1:g.328916del , LRG_287:g.328916del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1220del	ENSP00000434560.2:p.Lys407ArgfsTer?
ENST00000646564.2:c.1037del	ENSP00000495806.2:p.Lys346ArgfsTer?
ENST00000155840.12:c.1577del MANE Select	ENSP00000155840.2:p.Lys526ArgfsTer?
ENST00000335475.6:c.1196del	ENSP00000334497.5:p.Lys399ArgfsTer?
ENST00000646564.1:c.683del	ENSP00000495806.1:p.Lys228ArgfsTer?
ENST00000155840.9:c.1577del	ENSP00000155840.2:p.Lys526ArgfsTer?
ENST00000335475.5:c.1196del	ENSP00000334497.5:p.Lys399ArgfsTer?
NM_000218.2:c.1577del , LRG_287t1:c.1577del	NP_000209.2:p.Lys526ArgfsTer?
NM_181798.1:c.1196del , LRG_287t2:c.1196del	NP_861463.1:p.Lys399ArgfsTer?
NM_000218.3:c.1577del MANE Select	NP_000209.2:p.Lys526ArgfsTer?