Canonical Allele Identifier: CA2611239165
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122461699_122461700insACT , CM000672.2:g.122461699_122461700insACT GRCh38
NC_000010.10:g.124221215_124221216insACT , CM000672.1:g.124221215_124221216insACT GRCh37
NC_000010.9:g.124211205_124211206insACT NCBI36
NG_011554.1:g.5175_5176insACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.47_48insACT MANE Select ENSP00000357980.3:p.Leu16_Ala17insLeu
ENST00000648167.1:c.154+2990_154+2991insACT ENSP00000498033.1:n.154+2990_154+2991insACT
ENST00000368984.7:c.47_48insACT ENSP00000357980.3:p.Leu16_Ala17insLeu
NM_002775.4:c.47_48insACT NP_002766.1:p.Leu16_Ala17insLeu
NM_002775.5:c.47_48insACT MANE Select NP_002766.1:p.Leu16_Ala17insLeu