Canonical Allele Identifier: CA596374951
Gene: HTRA1 HGNC NCBI

Linked Data

dbSNP Id: rs1178271064
gnomAD v2: 10-124231888-T-TTATTAC
gnomAD v3: 10-122472372-T-TTATTAC
gnomAD v4: 10-122472372-T-TTATTAC
MyVariant Identifiers: chr10:g.124231888_124231889insTATTAC (hg19) chr10:g.122472372_122472373insTATTAC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122472377_122472378insCTATTA , CM000672.2:g.122472377_122472378insCTATTA GRCh38
NC_000010.10:g.124231893_124231894insCTATTA , CM000672.1:g.124231893_124231894insCTATTA GRCh37
NC_000010.9:g.124221883_124221884insCTATTA NCBI36
NG_011554.1:g.15853_15854insCTATTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.472+10253_472+10254insCTATTA MANE Select ENSP00000357980.3:n.472+10253_472+10254insCTATTA
ENST00000648167.1:c.154+13668_154+13669insCTATTA ENSP00000498033.1:n.154+13668_154+13669insCTATTA
ENST00000368984.7:c.472+10253_472+10254insCTATTA ENSP00000357980.3:n.472+10253_472+10254insCTATTA
NM_002775.4:c.472+10253_472+10254insCTATTA NP_002766.1:n.472+10253_472+10254insCTATTA
NM_002775.5:c.472+10253_472+10254insCTATTA MANE Select NP_002766.1:n.472+10253_472+10254insCTATTA
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