Canonical Allele Identifier: CA596374946
Gene: HTRA1 HGNC NCBI

Linked Data

dbSNP Id: rs1252919198
gnomAD v2: 10-124231873-ATTTC-A
gnomAD v3: 10-122472357-ATTTC-A
gnomAD v4: 10-122472357-ATTTC-A
MyVariant Identifiers: chr10:g.124231874_124231877del (hg19) chr10:g.122472358_122472361del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122472361_122472364del , CM000672.2:g.122472361_122472364del GRCh38
NC_000010.10:g.124231877_124231880del , CM000672.1:g.124231877_124231880del GRCh37
NC_000010.9:g.124221867_124221870del NCBI36
NG_011554.1:g.15837_15840del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.472+10237_472+10240del MANE Select ENSP00000357980.3:n.472+10237_472+10240del
ENST00000648167.1:c.154+13652_154+13655del ENSP00000498033.1:n.154+13652_154+13655del
ENST00000368984.7:c.472+10237_472+10240del ENSP00000357980.3:n.472+10237_472+10240del
NM_002775.4:c.472+10237_472+10240del NP_002766.1:n.472+10237_472+10240del
NM_002775.5:c.472+10237_472+10240del MANE Select NP_002766.1:n.472+10237_472+10240del
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