Canonical Allele Identifier: CA2611239227
Gene: HTRA1 HGNC NCBI

Linked Data

gnomAD v4: 10-122461726-CCCGGGCCGGCCGCTCGGCGCCTTTGGCCGCCGGGTGCCCAGACCGCTGCGAGCCGGCGCGCTGCCCGCCGCAGCCGGAGCACTGCGAGGGCGG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122461734_122461826del , CM000672.2:g.122461734_122461826del GRCh38
NC_000010.10:g.124221250_124221342del , CM000672.1:g.124221250_124221342del GRCh37
NC_000010.9:g.124211240_124211332del NCBI36
NG_011554.1:g.5210_5302del

Transcript Alleles

HGVS Amino-acid change
ENST00000368984.8:c.82_174del MANE Select ENSP00000357980.3:p.Gly28_Ala58del
ENST00000648167.1:c.154+3025_154+3117del ENSP00000498033.1:n.154+3025_154+3117del
ENST00000368984.7:c.82_174del ENSP00000357980.3:p.Gly28_Ala58del
NM_002775.4:c.82_174del NP_002766.1:p.Gly28_Ala58del
NM_002775.5:c.82_174del MANE Select NP_002766.1:p.Gly28_Ala58del
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