Canonical Allele Identifier: CA2610952445
Gene: HABP2 HGNC NCBI

Linked Data

gnomAD v4: 10-113588218-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.113588223del , CM000672.2:g.113588223del GRCh38
NC_000010.10:g.115347982del , CM000672.1:g.115347982del GRCh37
NC_000010.9:g.115337972del NCBI36
NG_008956.1:g.40205del

Transcript Alleles

HGVS Amino-acid Change
ENST00000351270.4:c.1537del MANE Select ENSP00000277903.4:p.Leu513Ter
ENST00000351270.3:c.1537del ENSP00000277903.4:p.Leu513Ter
ENST00000542051.5:c.1459del ENSP00000443283.1:p.Leu487Ter
NM_001177660.1:c.1459del NP_001171131.1:p.Leu487Ter
NM_004132.3:c.1537del NP_004123.1:p.Leu513Ter
NM_001177660.2:c.1459del NP_001171131.1:p.Leu487Ter
NM_004132.4:c.1537del NP_004123.1:p.Leu513Ter
NM_004132.5:c.1537del MANE Select NP_004123.1:p.Leu513Ter
NM_001177660.3:c.1459del NP_001171131.1:p.Leu487Ter
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