Canonical Allele Identifier: CA467370686
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs1216159689
gnomAD v2: 9-132576223-CA-C
gnomAD v3: 9-129813944-CA-C
gnomAD v4: 9-129813944-CA-C
MyVariant Identifiers: chr9:g.132576224del (hg19) chr9:g.129813945del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813945del , CM000671.2:g.129813945del GRCh38
NC_000009.11:g.132576224del , CM000671.1:g.132576224del GRCh37
NC_000009.10:g.131616045del NCBI36
NG_008049.1:g.15218del

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.*27del MANE Select ENSP00000345719.4:n.*27del
ENST00000651202.1:c.*294del ENSP00000498222.1:n.*294del
ENST00000351698.4:c.*27del ENSP00000345719.4:n.*27del
ENST00000474192.1:n.610del
NM_000113.2:c.*27del NP_000104.1:n.*27del
XR_929731.3:n.1221del
NM_000113.3:c.*27del MANE Select NP_000104.1:n.*27del
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