Canonical Allele Identifier: CA983772185

Gene: HAP1

Linked Data

• dbSNP Id: rs1911718446
• gnomAD v3: 17-41727187-AC-A
• gnomAD v4: 17-41727187-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41727192del , CM000679.2:g.41727192del	GRCh38
NC_000017.10:g.39883444del , CM000679.1:g.39883444del	GRCh37
NC_000017.9:g.37136970del	NCBI36
NG_009090.2:g.64525del , LRG_401:g.64525del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347901.9:c.1276-44del MANE Select	ENSP00000334002.4:n.1276-44del
ENST00000310778.5:c.1432-44del	ENSP00000309392.5:n.1432-44del
ENST00000341193.9:c.1225-44del	ENSP00000343170.5:n.1225-44del
ENST00000347901.8:c.1276-44del	ENSP00000334002.4:n.1276-44del
ENST00000393939.6:c.1201-44del	ENSP00000377513.2:n.1201-44del
NM_001079870.1:c.1225-44del	NP_001073339.1:n.1225-44del
NM_001079871.1:c.1201-44del	NP_001073340.1:n.1201-44del
NM_177977.2:c.1276-44del	NP_817084.2:n.1276-44del
NM_001367459.1:c.1372-44del	NP_001354388.1:n.1372-44del
NM_001367460.1:c.1336-44del	NP_001354389.1:n.1336-44del
NM_001367461.1:c.1201-44del	NP_001354390.1:n.1201-44del
NM_001367462.1:c.1201-44del	NP_001354391.1:n.1201-44del
NM_177977.3:c.1276-44del MANE Select	NP_817084.2:n.1276-44del