Canonical Allele Identifier: CA2695212891
Gene: HTRA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122506743del , CM000672.2:g.122506743del GRCh38
NC_000010.10:g.124266259del , CM000672.1:g.124266259del GRCh37
NC_000010.9:g.124256249del NCBI36
NG_011554.1:g.50219del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.830del MANE Select ENSP00000357980.3:p.Glu277GlyfsTer21
ENST00000648167.1:c.512del ENSP00000498033.1:p.Glu171GlyfsTer21
ENST00000368984.7:c.830del ENSP00000357980.3:p.Glu277GlyfsTer21
ENST00000420892.1:c.53del ENSP00000412676.1:p.Glu18GlyfsTer21
NM_002775.4:c.830del NP_002766.1:p.Glu277GlyfsTer21
NM_002775.5:c.830del MANE Select NP_002766.1:p.Glu277GlyfsTer21
Search 100 bp 5'
Search 100 bp 3'