Canonical Allele Identifier: CA2842616628
Gene: HTRA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122506870dup , CM000672.2:g.122506870dup GRCh38
NC_000010.10:g.124266386dup , CM000672.1:g.124266386dup GRCh37
NC_000010.9:g.124256376dup NCBI36
NG_011554.1:g.50346dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.957dup MANE Select ENSP00000357980.3:p.Asp320ArgfsTer19
ENST00000648167.1:c.639dup ENSP00000498033.1:p.Asp214ArgfsTer19
ENST00000368984.7:c.957dup ENSP00000357980.3:p.Asp320ArgfsTer19
ENST00000420892.1:c.180dup ENSP00000412676.1:p.Asp61ArgfsTer19
NM_002775.4:c.957dup NP_002766.1:p.Asp320ArgfsTer19
NM_002775.5:c.957dup MANE Select NP_002766.1:p.Asp320ArgfsTer19
Search 100 bp 5'
Search 100 bp 3'