Canonical Allele Identifier: CA2838355743

Gene: HAP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41727109_41727111del , CM000679.2:g.41727109_41727111del	GRCh38
NC_000017.10:g.39883361_39883363del , CM000679.1:g.39883361_39883363del	GRCh37
NC_000017.9:g.37136887_37136889del	NCBI36
NG_009090.2:g.64605_64607del , LRG_401:g.64605_64607del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347901.9:c.1312_1314del MANE Select	ENSP00000334002.4:p.Glu438del
ENST00000310778.5:c.1468_1470del	ENSP00000309392.5:p.Glu490del
ENST00000341193.9:c.1261_1263del	ENSP00000343170.5:p.Glu421del
ENST00000347901.8:c.1312_1314del	ENSP00000334002.4:p.Glu438del
ENST00000393939.6:c.1237_1239del	ENSP00000377513.2:p.Glu413del
NM_001079870.1:c.1261_1263del	NP_001073339.1:p.Glu421del
NM_001079871.1:c.1237_1239del	NP_001073340.1:p.Glu413del
NM_177977.2:c.1312_1314del	NP_817084.2:p.Glu438del
NM_001367459.1:c.1408_1410del	NP_001354388.1:p.Glu470del
NM_001367460.1:c.1372_1374del	NP_001354389.1:p.Glu458del
NM_001367461.1:c.1237_1239del	NP_001354390.1:p.Glu413del
NM_001367462.1:c.1237_1239del	NP_001354391.1:p.Glu413del
NM_177977.3:c.1312_1314del MANE Select	NP_817084.2:p.Glu438del