Canonical Allele Identifier: CA2260155213

Gene: HAP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41727100_41727130delinsTCTGAGCTCCTCAGCCAGCGTCTCCTGGAAA , CM000679.2:g.41727100_41727130delinsTCTGAGCTCCTCAGCCAGCGTCTCCTGGAAA	GRCh38
NC_000017.10:g.39883352_39883382delinsTCTGAGCTCCTCAGCCAGCGTCTCCTGGAAA , CM000679.1:g.39883352_39883382delinsTCTGAGCTCCTCAGCCAGCGTCTCCTGGAAA	GRCh37
NC_000017.9:g.37136878_37136908delinsTCTGAGCTCCTCAGCCAGCGTCTCCTGGAAA	NCBI36
NG_009090.2:g.64583_64613delinsTTTCCAGGAGACGCTGGCTGAGGAGCTCAGA , LRG_401:g.64583_64613delinsTTTCCAGGAGACGCTGGCTGAGGAGCTCAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347901.9:c.1290_1320delinsTTTCCAGGAGACGCTGGCTGAGGAGCTCAGA MANE Select	ENSP00000334002.4:p.Gly430=
ENST00000310778.5:c.1446_1476delinsTTTCCAGGAGACGCTGGCTGAGGAGCTCAGA	ENSP00000309392.5:p.Gly482=
ENST00000341193.9:c.1239_1269delinsTTTCCAGGAGACGCTGGCTGAGGAGCTCAGA	ENSP00000343170.5:p.Gly413=
ENST00000347901.8:c.1290_1320delinsTTTCCAGGAGACGCTGGCTGAGGAGCTCAGA	ENSP00000334002.4:p.Gly430=
ENST00000393939.6:c.1215_1245delinsTTTCCAGGAGACGCTGGCTGAGGAGCTCAGA	ENSP00000377513.2:p.Gly405=
NM_001079870.1:c.1239_1269delinsTTTCCAGGAGACGCTGGCTGAGGAGCTCAGA	NP_001073339.1:p.Gly413=
NM_001079871.1:c.1215_1245delinsTTTCCAGGAGACGCTGGCTGAGGAGCTCAGA	NP_001073340.1:p.Gly405=
NM_177977.2:c.1290_1320delinsTTTCCAGGAGACGCTGGCTGAGGAGCTCAGA	NP_817084.2:p.Gly430=
NM_001367459.1:c.1386_1416delinsTTTCCAGGAGACGCTGGCTGAGGAGCTCAGA	NP_001354388.1:p.Gly462=
NM_001367460.1:c.1350_1380delinsTTTCCAGGAGACGCTGGCTGAGGAGCTCAGA	NP_001354389.1:p.Gly450=
NM_001367461.1:c.1215_1245delinsTTTCCAGGAGACGCTGGCTGAGGAGCTCAGA	NP_001354390.1:p.Gly405=
NM_001367462.1:c.1215_1245delinsTTTCCAGGAGACGCTGGCTGAGGAGCTCAGA	NP_001354391.1:p.Gly405=
NM_177977.3:c.1290_1320delinsTTTCCAGGAGACGCTGGCTGAGGAGCTCAGA MANE Select	NP_817084.2:p.Gly430=