Canonical Allele Identifier: CA214411069
Gene: HTRA1 HGNC NCBI

Linked Data

dbSNP Id: rs928422952
gnomAD v3: 10-122506446-TTG-T
gnomAD v4: 10-122506446-TTG-T
MyVariant Identifiers: chr10:g.124265963_124265964del (hg19) chr10:g.122506447_122506448del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122506447_122506448del , CM000672.2:g.122506447_122506448del GRCh38
NC_000010.10:g.124265963_124265964del , CM000672.1:g.124265963_124265964del GRCh37
NC_000010.9:g.124255953_124255954del NCBI36
NG_011554.1:g.49923_49924del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.778-244_778-243del MANE Select ENSP00000357980.3:n.778-244_778-243del
ENST00000648167.1:c.460-244_460-243del ENSP00000498033.1:n.460-244_460-243del
ENST00000368984.7:c.778-244_778-243del ENSP00000357980.3:n.778-244_778-243del
NM_002775.4:c.778-244_778-243del NP_002766.1:n.778-244_778-243del
NM_002775.5:c.778-244_778-243del MANE Select NP_002766.1:n.778-244_778-243del
Search 100 bp 5'
Search 100 bp 3'