Canonical Allele Identifier: CA2260155200

Gene: HAP1

Linked Data

• dbSNP Id: rs1911702703

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41727079dup , CM000679.2:g.41727079dup	GRCh38
NC_000017.10:g.39883331dup , CM000679.1:g.39883331dup	GRCh37
NC_000017.9:g.37136857dup	NCBI36
NG_009090.2:g.64634dup , LRG_401:g.64634dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347901.9:c.1341dup MANE Select	ENSP00000334002.4:p.Ser448LeufsTer12
ENST00000310778.5:c.1497dup	ENSP00000309392.5:p.Ser500LeufsTer12
ENST00000341193.9:c.1290dup	ENSP00000343170.5:p.Ser431LeufsTer12
ENST00000347901.8:c.1341dup	ENSP00000334002.4:p.Ser448LeufsTer12
ENST00000393939.6:c.1266dup	ENSP00000377513.2:p.Ser423LeufsTer12
NM_001079870.1:c.1290dup	NP_001073339.1:p.Ser431LeufsTer12
NM_001079871.1:c.1266dup	NP_001073340.1:p.Ser423LeufsTer12
NM_177977.2:c.1341dup	NP_817084.2:p.Ser448LeufsTer12
NM_001367459.1:c.1437dup	NP_001354388.1:p.Ser480LeufsTer12
NM_001367460.1:c.1401dup	NP_001354389.1:p.Ser468LeufsTer12
NM_001367461.1:c.1266dup	NP_001354390.1:p.Ser423LeufsTer12
NM_001367462.1:c.1266dup	NP_001354391.1:p.Ser423LeufsTer12
NM_177977.3:c.1341dup MANE Select	NP_817084.2:p.Ser448LeufsTer12