Canonical Allele Identifier: CA2611239122
Gene: HTRA1 HGNC NCBI

Linked Data

gnomAD v4: 10-122461681-CGCTGCTGCT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122461692_122461700del , CM000672.2:g.122461692_122461700del GRCh38
NC_000010.10:g.124221208_124221216del , CM000672.1:g.124221208_124221216del GRCh37
NC_000010.9:g.124211198_124211206del NCBI36
NG_011554.1:g.5168_5176del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.40_48del MANE Select ENSP00000357980.3:p.Leu14_Leu16del
ENST00000648167.1:c.154+2983_154+2991del ENSP00000498033.1:n.154+2983_154+2991del
ENST00000368984.7:c.40_48del ENSP00000357980.3:p.Leu14_Leu16del
NM_002775.4:c.40_48del NP_002766.1:p.Leu14_Leu16del
NM_002775.5:c.40_48del MANE Select NP_002766.1:p.Leu14_Leu16del
Search 100 bp 5'
Search 100 bp 3'