Canonical Allele Identifier: CA596374949
Gene: HTRA1 HGNC NCBI

Linked Data

dbSNP Id: rs56115456
gnomAD v2: 10-124231885-CTATTATTATTAT-C
gnomAD v3: 10-122472369-CTATTATTATTAT-C
gnomAD v4: 10-122472369-CTATTATTATTAT-C
MyVariant Identifiers: chr10:g.124231886_124231897del (hg19) chr10:g.122472370_122472381del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122472401_122472412del , CM000672.2:g.122472401_122472412del GRCh38
NC_000010.10:g.124231917_124231928del , CM000672.1:g.124231917_124231928del GRCh37
NC_000010.9:g.124221907_124221918del NCBI36
NG_011554.1:g.15877_15888del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.472+10277_472+10288del MANE Select ENSP00000357980.3:n.472+10277_472+10288del
ENST00000648167.1:c.154+13692_154+13703del ENSP00000498033.1:n.154+13692_154+13703del
ENST00000368984.7:c.472+10277_472+10288del ENSP00000357980.3:n.472+10277_472+10288del
NM_002775.4:c.472+10277_472+10288del NP_002766.1:n.472+10277_472+10288del
NM_002775.5:c.472+10277_472+10288del MANE Select NP_002766.1:n.472+10277_472+10288del
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