Canonical Allele Identifier: CA2611239124
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122461682del , CM000672.2:g.122461682del GRCh38
NC_000010.10:g.124221198del , CM000672.1:g.124221198del GRCh37
NC_000010.9:g.124211188del NCBI36
NG_011554.1:g.5158del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.30del MANE Select ENSP00000357980.3:p.Leu11CysfsTer?
ENST00000648167.1:c.154+2973del ENSP00000498033.1:n.154+2973del
ENST00000368984.7:c.30del ENSP00000357980.3:p.Leu11CysfsTer?
NM_002775.4:c.30del NP_002766.1:p.Leu11CysfsTer?
NM_002775.5:c.30del MANE Select NP_002766.1:p.Leu11CysfsTer?