Canonical Allele Identifier: CA214389859
Gene: HTRA1 HGNC NCBI

Linked Data

dbSNP Id: rs56115456
gnomAD v3: 10-122472369-C-CTATTATTAT
gnomAD v4: 10-122472369-C-CTATTATTAT
MyVariant Identifiers: chr10:g.124231885_124231886insTATTATTAT (hg19) chr10:g.122472369_122472370insTATTATTAT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122472404_122472412dup , CM000672.2:g.122472404_122472412dup GRCh38
NC_000010.10:g.124231920_124231928dup , CM000672.1:g.124231920_124231928dup GRCh37
NC_000010.9:g.124221910_124221918dup NCBI36
NG_011554.1:g.15880_15888dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.472+10280_472+10288dup MANE Select ENSP00000357980.3:n.472+10280_472+10288dup
ENST00000648167.1:c.154+13695_154+13703dup ENSP00000498033.1:n.154+13695_154+13703dup
ENST00000368984.7:c.472+10280_472+10288dup ENSP00000357980.3:n.472+10280_472+10288dup
NM_002775.4:c.472+10280_472+10288dup NP_002766.1:n.472+10280_472+10288dup
NM_002775.5:c.472+10280_472+10288dup MANE Select NP_002766.1:n.472+10280_472+10288dup
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