Canonical Allele Identifier: CA933343354
Gene: HTRA1 HGNC NCBI

Linked Data

dbSNP Id: rs2097486375

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122472130_122472131del , CM000672.2:g.122472130_122472131del GRCh38
NC_000010.10:g.124231646_124231647del , CM000672.1:g.124231646_124231647del GRCh37
NC_000010.9:g.124221636_124221637del NCBI36
NG_011554.1:g.15606_15607del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.472+10006_472+10007del MANE Select ENSP00000357980.3:n.472+10006_472+10007del
ENST00000648167.1:c.154+13421_154+13422del ENSP00000498033.1:n.154+13421_154+13422del
ENST00000368984.7:c.472+10006_472+10007del ENSP00000357980.3:n.472+10006_472+10007del
NM_002775.4:c.472+10006_472+10007del NP_002766.1:n.472+10006_472+10007del
NM_002775.5:c.472+10006_472+10007del MANE Select NP_002766.1:n.472+10006_472+10007del