Canonical Allele Identifier: CA10626566

Gene: TOR1A

Linked Data

• ClinVar Variation Id: 365216
• ClinVar RCV Id: RCV000314082
• dbSNP Id: rs3842225
• gnomAD v2: 9-132575426-GC-G
• gnomAD v3: 9-129813147-GC-G
• gnomAD v4: 9-129813147-GC-G
• COSMIC: COSN20106655 ; COSN20106656 ; COSN20106657 ; COSN20106658
• MyVariant Identifiers: chr9:g.132575427del (hg19) ; chr9:g.129813148del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129813148del , CM000671.2:g.129813148del	GRCh38
NC_000009.11:g.132575427del , CM000671.1:g.132575427del	GRCh37
NC_000009.10:g.131615248del	NCBI36
NG_008049.1:g.16015del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.*824del MANE Select	ENSP00000345719.4:n.*824del
ENST00000651202.1:c.*1091del	ENSP00000498222.1:n.*1091del
ENST00000351698.4:c.*824del	ENSP00000345719.4:n.*824del
NM_000113.2:c.*824del	NP_000104.1:n.*824del
XR_929731.3:n.2018del
NM_000113.3:c.*824del MANE Select	NP_000104.1:n.*824del