Canonical Allele Identifier: CA2574672126

Gene: HABP2

Linked Data

• gnomAD v4: 10-113588352-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.113588353del , CM000672.2:g.113588353del	GRCh38
NC_000010.10:g.115348112del , CM000672.1:g.115348112del	GRCh37
NC_000010.9:g.115338102del	NCBI36
NG_008956.1:g.40335del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351270.4:c.1667del MANE Select	ENSP00000277903.4:p.Ser556MetfsTer21
ENST00000351270.3:c.1667del	ENSP00000277903.4:p.Ser556MetfsTer21
ENST00000542051.5:c.1589del	ENSP00000443283.1:p.Ser530MetfsTer21
NM_001177660.1:c.1589del	NP_001171131.1:p.Ser530MetfsTer21
NM_004132.3:c.1667del	NP_004123.1:p.Ser556MetfsTer21
NM_001177660.2:c.1589del	NP_001171131.1:p.Ser530MetfsTer21
NM_004132.4:c.1667del	NP_004123.1:p.Ser556MetfsTer21
NM_004132.5:c.1667del MANE Select	NP_004123.1:p.Ser556MetfsTer21
NM_001177660.3:c.1589del	NP_001171131.1:p.Ser530MetfsTer21