Canonical Allele Identifier: CA471663253
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122472371_122472384del , CM000672.2:g.122472371_122472384del GRCh38
NC_000010.10:g.124231887_124231900del , CM000672.1:g.124231887_124231900del GRCh37
NC_000010.9:g.124221877_124221890del NCBI36
NG_011554.1:g.15847_15860del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.472+10247_472+10260del MANE Select ENSP00000357980.3:n.472+10247_472+10260del
ENST00000648167.1:c.154+13662_154+13675del ENSP00000498033.1:n.154+13662_154+13675del
ENST00000368984.7:c.472+10247_472+10260del ENSP00000357980.3:n.472+10247_472+10260del
NM_002775.4:c.472+10247_472+10260del NP_002766.1:n.472+10247_472+10260del
NM_002775.5:c.472+10247_472+10260del MANE Select NP_002766.1:n.472+10247_472+10260del