Canonical Allele Identifier: CA2695213188

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583513_2583514del , CM000673.2:g.2583513_2583514del	GRCh38
NC_000011.9:g.2604743_2604744del , CM000673.1:g.2604743_2604744del	GRCh37
NC_000011.8:g.2561319_2561320del	NCBI36
NG_008935.1:g.143523_143524del , LRG_287:g.143523_143524del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.739_740del	ENSP00000434560.2:p.Val247LeufsTer?
ENST00000646564.2:c.556_557del	ENSP00000495806.2:p.Val186LeufsTer?
ENST00000155840.12:c.1000_1001del MANE Select	ENSP00000155840.2:p.Val334LeufsTer?
ENST00000335475.6:c.619_620del	ENSP00000334497.5:p.Val207LeufsTer?
ENST00000646564.1:c.202_203del	ENSP00000495806.1:p.Val68LeufsTer?
ENST00000155840.9:c.1000_1001del	ENSP00000155840.2:p.Val334LeufsTer?
ENST00000335475.5:c.619_620del	ENSP00000334497.5:p.Val207LeufsTer?
NM_000218.2:c.1000_1001del , LRG_287t1:c.1000_1001del	NP_000209.2:p.Val334LeufsTer?
NM_181798.1:c.619_620del , LRG_287t2:c.619_620del	NP_861463.1:p.Val207LeufsTer?
NM_000218.3:c.1000_1001del MANE Select	NP_000209.2:p.Val334LeufsTer?