Canonical Allele Identifier: CA596374948
Gene: HTRA1 HGNC NCBI

Linked Data

dbSNP Id: rs1458426563
gnomAD v2: 10-124231879-TTATTAC-T
gnomAD v3: 10-122472363-TTATTAC-T
gnomAD v4: 10-122472363-TTATTAC-T
MyVariant Identifiers: chr10:g.124231880_124231885del (hg19) chr10:g.122472364_122472369del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122472369_122472374del , CM000672.2:g.122472369_122472374del GRCh38
NC_000010.10:g.124231885_124231890del , CM000672.1:g.124231885_124231890del GRCh37
NC_000010.9:g.124221875_124221880del NCBI36
NG_011554.1:g.15845_15850del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.472+10245_472+10250del MANE Select ENSP00000357980.3:n.472+10245_472+10250del
ENST00000648167.1:c.154+13660_154+13665del ENSP00000498033.1:n.154+13660_154+13665del
ENST00000368984.7:c.472+10245_472+10250del ENSP00000357980.3:n.472+10245_472+10250del
NM_002775.4:c.472+10245_472+10250del NP_002766.1:n.472+10245_472+10250del
NM_002775.5:c.472+10245_472+10250del MANE Select NP_002766.1:n.472+10245_472+10250del
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