Canonical Allele Identifier: CA2260155214

Gene: HAP1

Linked Data

• dbSNP Id: rs1911705592

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41727102_41727131del , CM000679.2:g.41727102_41727131del	GRCh38
NC_000017.10:g.39883354_39883383del , CM000679.1:g.39883354_39883383del	GRCh37
NC_000017.9:g.37136880_37136909del	NCBI36
NG_009090.2:g.64583_64612del , LRG_401:g.64583_64612del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347901.9:c.1290_1319del MANE Select	ENSP00000334002.4:p.Phe431_Arg440del
ENST00000310778.5:c.1446_1475del	ENSP00000309392.5:p.Phe483_Arg492del
ENST00000341193.9:c.1239_1268del	ENSP00000343170.5:p.Phe414_Arg423del
ENST00000347901.8:c.1290_1319del	ENSP00000334002.4:p.Phe431_Arg440del
ENST00000393939.6:c.1215_1244del	ENSP00000377513.2:p.Phe406_Arg415del
NM_001079870.1:c.1239_1268del	NP_001073339.1:p.Phe414_Arg423del
NM_001079871.1:c.1215_1244del	NP_001073340.1:p.Phe406_Arg415del
NM_177977.2:c.1290_1319del	NP_817084.2:p.Phe431_Arg440del
NM_001367459.1:c.1386_1415del	NP_001354388.1:p.Phe463_Arg472del
NM_001367460.1:c.1350_1379del	NP_001354389.1:p.Phe451_Arg460del
NM_001367461.1:c.1215_1244del	NP_001354390.1:p.Phe406_Arg415del
NM_001367462.1:c.1215_1244del	NP_001354391.1:p.Phe406_Arg415del
NM_177977.3:c.1290_1319del MANE Select	NP_817084.2:p.Phe431_Arg440del