Canonical Allele Identifier: CA214389728
Gene: HTRA1 HGNC NCBI

Linked Data

dbSNP Id: rs550618072
gnomAD v2: 10-124231702-CT-C
gnomAD v3: 10-122472186-CT-C
gnomAD v4: 10-122472186-CT-C
MyVariant Identifiers: chr10:g.124231703del (hg19) chr10:g.122472187del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122472195del , CM000672.2:g.122472195del GRCh38
NC_000010.10:g.124231711del , CM000672.1:g.124231711del GRCh37
NC_000010.9:g.124221701del NCBI36
NG_011554.1:g.15671del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.472+10071del MANE Select ENSP00000357980.3:n.472+10071del
ENST00000648167.1:c.154+13486del ENSP00000498033.1:n.154+13486del
ENST00000368984.7:c.472+10071del ENSP00000357980.3:n.472+10071del
NM_002775.4:c.472+10071del NP_002766.1:n.472+10071del
NM_002775.5:c.472+10071del MANE Select NP_002766.1:n.472+10071del
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