Canonical Allele Identifier: CA590684979
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs1231598889
gnomAD v2: 9-132575908-TACC-T
gnomAD v3: 9-129813629-TACC-T
gnomAD v4: 9-129813629-TACC-T
MyVariant Identifiers: chr9:g.132575909_132575911del (hg19) chr9:g.129813630_129813632del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813632_129813634del , CM000671.2:g.129813632_129813634del GRCh38
NC_000009.11:g.132575911_132575913del , CM000671.1:g.132575911_132575913del GRCh37
NC_000009.10:g.131615732_131615734del NCBI36
NG_008049.1:g.15531_15533del

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.*340_*342del MANE Select ENSP00000345719.4:n.*340_*342del
ENST00000651202.1:c.*607_*609del ENSP00000498222.1:n.*607_*609del
ENST00000351698.4:c.*340_*342del ENSP00000345719.4:n.*340_*342del
ENST00000474192.1:n.923_925del
NM_000113.2:c.*340_*342del NP_000104.1:n.*340_*342del
XR_929731.3:n.1534_1536del
NM_000113.3:c.*340_*342del MANE Select NP_000104.1:n.*340_*342del
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