Canonical Allele Identifier: CA5726030
Gene: HTRA1 HGNC NCBI

Linked Data

dbSNP Id: rs764984813

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122508644_122508646del , CM000672.2:g.122508644_122508646del GRCh38
NC_000010.10:g.124268160_124268162del , CM000672.1:g.124268160_124268162del GRCh37
NC_000010.9:g.124258150_124258152del NCBI36
NG_011554.1:g.52120_52122del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.1006-12_1006-10del MANE Select ENSP00000357980.3:n.1006-12_1006-10del
ENST00000648167.1:c.688-12_688-10del ENSP00000498033.1:n.688-12_688-10del
ENST00000368984.7:c.1006-12_1006-10del ENSP00000357980.3:n.1006-12_1006-10del
ENST00000420892.1:c.229-12_229-10del ENSP00000412676.1:n.229-12_229-10del
NM_002775.4:c.1006-12_1006-10del NP_002766.1:n.1006-12_1006-10del
NM_002775.5:c.1006-12_1006-10del MANE Select NP_002766.1:n.1006-12_1006-10del