Canonical Allele Identifier: CA200533485
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs1056307854
gnomAD v3: 9-129813535-AATG-A
gnomAD v4: 9-129813535-AATG-A
MyVariant Identifiers: chr9:g.132575815_132575817del (hg19) chr9:g.129813536_129813538del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813540_129813542del , CM000671.2:g.129813540_129813542del GRCh38
NC_000009.11:g.132575819_132575821del , CM000671.1:g.132575819_132575821del GRCh37
NC_000009.10:g.131615640_131615642del NCBI36
NG_008049.1:g.15625_15627del

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.*434_*436del MANE Select ENSP00000345719.4:n.*434_*436del
ENST00000651202.1:c.*701_*703del ENSP00000498222.1:n.*701_*703del
ENST00000351698.4:c.*434_*436del ENSP00000345719.4:n.*434_*436del
NM_000113.2:c.*434_*436del NP_000104.1:n.*434_*436del
XR_929731.3:n.1628_1630del
NM_000113.3:c.*434_*436del MANE Select NP_000104.1:n.*434_*436del
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