Canonical Allele Identifier: CA375197254
Gene: TOR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.129813946del (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813946del , CM000671.2:g.129813946del GRCh38
NC_000009.11:g.132576225del , CM000671.1:g.132576225del GRCh37
NC_000009.10:g.131616046del NCBI36
NG_008049.1:g.15217del

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.*26del MANE Select ENSP00000345719.4:n.*26del
ENST00000651202.1:c.*293del ENSP00000498222.1:n.*293del
ENST00000351698.4:c.*26del ENSP00000345719.4:n.*26del
ENST00000474192.1:n.609del
NM_000113.2:c.*26del NP_000104.1:n.*26del
XR_929731.3:n.1220del
NM_000113.3:c.*26del MANE Select NP_000104.1:n.*26del