Canonical Allele Identifier: CA214389812
Gene: HTRA1 HGNC NCBI

Linked Data

dbSNP Id: rs923988613
gnomAD v3: 10-122472311-TAAGAA-T
gnomAD v4: 10-122472311-TAAGAA-T
MyVariant Identifiers: chr10:g.124231828_124231832del (hg19) chr10:g.122472312_122472316del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122472317_122472321del , CM000672.2:g.122472317_122472321del GRCh38
NC_000010.10:g.124231833_124231837del , CM000672.1:g.124231833_124231837del GRCh37
NC_000010.9:g.124221823_124221827del NCBI36
NG_011554.1:g.15793_15797del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.472+10193_472+10197del MANE Select ENSP00000357980.3:n.472+10193_472+10197del
ENST00000648167.1:c.154+13608_154+13612del ENSP00000498033.1:n.154+13608_154+13612del
ENST00000368984.7:c.472+10193_472+10197del ENSP00000357980.3:n.472+10193_472+10197del
NM_002775.4:c.472+10193_472+10197del NP_002766.1:n.472+10193_472+10197del
NM_002775.5:c.472+10193_472+10197del MANE Select NP_002766.1:n.472+10193_472+10197del
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