Canonical Allele Identifier: CA1941478180
Gene: HTRA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122508853_122508856delinsAGCG , CM000672.2:g.122508853_122508856delinsAGCG GRCh38
NC_000010.10:g.124268369_124268372delinsAGCG , CM000672.1:g.124268369_124268372delinsAGCG GRCh37
NC_000010.9:g.124258359_124258362delinsAGCG NCBI36
NG_011554.1:g.52329_52332delinsAGCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.1120+83_1120+86delinsAGCG MANE Select ENSP00000357980.3:n.1120+83_1120+86delinsAGCG
ENST00000648167.1:c.802+83_802+86delinsAGCG ENSP00000498033.1:n.802+83_802+86delinsAGCG
ENST00000368984.7:c.1120+83_1120+86delinsAGCG ENSP00000357980.3:n.1120+83_1120+86delinsAGCG
ENST00000420892.1:c.343+83_343+86delinsAGCG ENSP00000412676.1:n.343+83_343+86delinsAGCG
NM_002775.4:c.1120+83_1120+86delinsAGCG NP_002766.1:n.1120+83_1120+86delinsAGCG
NM_002775.5:c.1120+83_1120+86delinsAGCG MANE Select NP_002766.1:n.1120+83_1120+86delinsAGCG