Canonical Allele Identifier: CA933339340
Gene: HTRA1 HGNC NCBI

Linked Data

dbSNP Id: rs2097480673
gnomAD v3: 10-122460897-CACA-C
gnomAD v4: 10-122460897-CACA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122460903_122460905del , CM000672.2:g.122460903_122460905del GRCh38
NC_000010.10:g.124220419_124220421del , CM000672.1:g.124220419_124220421del GRCh37
NC_000010.9:g.124210409_124210411del NCBI36
NG_011554.1:g.4379_4381del

Transcript Alleles

HGVS Amino-acid Change
ENST00000648167.1:c.154+2194_154+2196del ENSP00000498033.1:n.154+2194_154+2196del
XR_946382.1:n.410+49_410+51del
XR_946383.1:n.410+49_410+51del
XR_946384.1:n.410+49_410+51del
XR_946385.1:n.410+49_410+51del
XR_946382.2:n.438+49_438+51del
XR_946383.2:n.438+49_438+51del
XR_946384.2:n.414+49_414+51del
XR_946385.2:n.438+49_438+51del
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