Canonical Allele Identifier: CA660871918
Gene: HTRA1 HGNC NCBI

Linked Data

dbSNP Id: rs1229640672
gnomAD v3: 10-122472381-T-TTAC
gnomAD v4: 10-122472381-T-TTAC
MyVariant Identifiers: chr10:g.124231897_124231898insTAC (hg19) chr10:g.122472381_122472382insTAC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122472383_122472384insCTA , CM000672.2:g.122472383_122472384insCTA GRCh38
NC_000010.10:g.124231899_124231900insCTA , CM000672.1:g.124231899_124231900insCTA GRCh37
NC_000010.9:g.124221889_124221890insCTA NCBI36
NG_011554.1:g.15859_15860insCTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.472+10259_472+10260insCTA MANE Select ENSP00000357980.3:n.472+10259_472+10260insCTA
ENST00000648167.1:c.154+13674_154+13675insCTA ENSP00000498033.1:n.154+13674_154+13675insCTA
ENST00000368984.7:c.472+10259_472+10260insCTA ENSP00000357980.3:n.472+10259_472+10260insCTA
NM_002775.4:c.472+10259_472+10260insCTA NP_002766.1:n.472+10259_472+10260insCTA
NM_002775.5:c.472+10259_472+10260insCTA MANE Select NP_002766.1:n.472+10259_472+10260insCTA
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