Canonical Allele Identifier: CA660871802
Gene: HTRA1 HGNC NCBI

Linked Data

dbSNP Id: rs1436039439
gnomAD v3: 10-122472316-AAAG-A
gnomAD v4: 10-122472316-AAAG-A
MyVariant Identifiers: chr10:g.124231833_124231835del (hg19) chr10:g.122472317_122472319del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122472321_122472323del , CM000672.2:g.122472321_122472323del GRCh38
NC_000010.10:g.124231837_124231839del , CM000672.1:g.124231837_124231839del GRCh37
NC_000010.9:g.124221827_124221829del NCBI36
NG_011554.1:g.15797_15799del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.472+10197_472+10199del MANE Select ENSP00000357980.3:n.472+10197_472+10199del
ENST00000648167.1:c.154+13612_154+13614del ENSP00000498033.1:n.154+13612_154+13614del
ENST00000368984.7:c.472+10197_472+10199del ENSP00000357980.3:n.472+10197_472+10199del
NM_002775.4:c.472+10197_472+10199del NP_002766.1:n.472+10197_472+10199del
NM_002775.5:c.472+10197_472+10199del MANE Select NP_002766.1:n.472+10197_472+10199del
Search 100 bp 5'
Search 100 bp 3'