Canonical Allele Identifier: CA2611247024
Gene: HTRA1 HGNC NCBI

Linked Data

gnomAD v4: 10-122508735-AG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122508736del , CM000672.2:g.122508736del GRCh38
NC_000010.10:g.124268252del , CM000672.1:g.124268252del GRCh37
NC_000010.9:g.124258242del NCBI36
NG_011554.1:g.52212del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.1086del MANE Select ENSP00000357980.3:p.Lys362AsnfsTer26
ENST00000648167.1:c.768del ENSP00000498033.1:p.Lys256AsnfsTer26
ENST00000368984.7:c.1086del ENSP00000357980.3:p.Lys362AsnfsTer26
ENST00000420892.1:c.309del ENSP00000412676.1:p.Lys103AsnfsTer26
NM_002775.4:c.1086del NP_002766.1:p.Lys362AsnfsTer26
NM_002775.5:c.1086del MANE Select NP_002766.1:p.Lys362AsnfsTer26
Search 100 bp 5'
Search 100 bp 3'