Canonical Allele Identifier: CA2611239699
Gene: HTRA1 HGNC NCBI

Linked Data

gnomAD v4: 10-122462055-G-GCCAGCCGCCGCTCCGAGAGGCTGCA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122462058_122462082dup , CM000672.2:g.122462058_122462082dup GRCh38
NC_000010.10:g.124221574_124221598dup , CM000672.1:g.124221574_124221598dup GRCh37
NC_000010.9:g.124211564_124211588dup NCBI36
NG_011554.1:g.5534_5558dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.406_430dup MANE Select ENSP00000357980.3:p.Arg144GlnfsTer33
ENST00000648167.1:c.154+3349_154+3373dup ENSP00000498033.1:n.154+3349_154+3373dup
ENST00000368984.7:c.406_430dup ENSP00000357980.3:p.Arg144GlnfsTer33
NM_002775.4:c.406_430dup NP_002766.1:p.Arg144GlnfsTer33
NM_002775.5:c.406_430dup MANE Select NP_002766.1:p.Arg144GlnfsTer33
Search 100 bp 5'
Search 100 bp 3'