Canonical Allele Identifier: CA2611239152
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122461691del , CM000672.2:g.122461691del GRCh38
NC_000010.10:g.124221207del , CM000672.1:g.124221207del GRCh37
NC_000010.9:g.124211197del NCBI36
NG_011554.1:g.5167del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.39del MANE Select ENSP00000357980.3:p.Leu14CysfsTer?
ENST00000648167.1:c.154+2982del ENSP00000498033.1:n.154+2982del
ENST00000368984.7:c.39del ENSP00000357980.3:p.Leu14CysfsTer?
NM_002775.4:c.39del NP_002766.1:p.Leu14CysfsTer?
NM_002775.5:c.39del MANE Select NP_002766.1:p.Leu14CysfsTer?