Canonical Allele Identifier: CA2611239448
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122461928del , CM000672.2:g.122461928del GRCh38
NC_000010.10:g.124221444del , CM000672.1:g.124221444del GRCh37
NC_000010.9:g.124211434del NCBI36
NG_011554.1:g.5404del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.276del MANE Select ENSP00000357980.3:p.Phe93SerfsTer?
ENST00000648167.1:c.154+3219del ENSP00000498033.1:n.154+3219del
ENST00000368984.7:c.276del ENSP00000357980.3:p.Phe93SerfsTer?
NM_002775.4:c.276del NP_002766.1:p.Phe93SerfsTer?
NM_002775.5:c.276del MANE Select NP_002766.1:p.Phe93SerfsTer?