Canonical Allele Identifier: CA596374926
Gene: HTRA1 HGNC NCBI

Linked Data

dbSNP Id: rs1186922327
gnomAD v2: 10-124231428-CCTTCTCCCTA-C
gnomAD v3: 10-122471912-CCTTCTCCCTA-C
gnomAD v4: 10-122471912-CCTTCTCCCTA-C
MyVariant Identifiers: chr10:g.124231429_124231438del (hg19) chr10:g.122471913_122471922del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122471923_122471932del , CM000672.2:g.122471923_122471932del GRCh38
NC_000010.10:g.124231439_124231448del , CM000672.1:g.124231439_124231448del GRCh37
NC_000010.9:g.124221429_124221438del NCBI36
NG_011554.1:g.15399_15408del

Transcript Alleles

HGVS Amino-acid change
ENST00000368984.8:c.472+9799_472+9808del MANE Select ENSP00000357980.3:n.472+9799_472+9808del
ENST00000648167.1:c.154+13214_154+13223del ENSP00000498033.1:n.154+13214_154+13223de...
ENST00000368984.7:c.472+9799_472+9808del ENSP00000357980.3:n.472+9799_472+9808del
NM_002775.4:c.472+9799_472+9808del NP_002766.1:n.472+9799_472+9808del
NM_002775.5:c.472+9799_472+9808del MANE Select NP_002766.1:n.472+9799_472+9808del
Search 100 bp 5'
Search 100 bp 3'