Canonical Allele Identifier: CA2611247069
Gene: HTRA1 HGNC NCBI

Linked Data

gnomAD v4: 10-122508844-GAA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122508845_122508846del , CM000672.2:g.122508845_122508846del GRCh38
NC_000010.10:g.124268361_124268362del , CM000672.1:g.124268361_124268362del GRCh37
NC_000010.9:g.124258351_124258352del NCBI36
NG_011554.1:g.52321_52322del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.1120+75_1120+76del MANE Select ENSP00000357980.3:n.1120+75_1120+76del
ENST00000648167.1:c.802+75_802+76del ENSP00000498033.1:n.802+75_802+76del
ENST00000368984.7:c.1120+75_1120+76del ENSP00000357980.3:n.1120+75_1120+76del
ENST00000420892.1:c.343+75_343+76del ENSP00000412676.1:n.343+75_343+76del
NM_002775.4:c.1120+75_1120+76del NP_002766.1:n.1120+75_1120+76del
NM_002775.5:c.1120+75_1120+76del MANE Select NP_002766.1:n.1120+75_1120+76del
Search 100 bp 5'
Search 100 bp 3'