Canonical Allele Identifier: CA2692045902

Gene: TOR1A

Linked Data

• gnomAD v4: 9-129818935-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129818940del , CM000671.2:g.129818940del	GRCh38
NC_000009.11:g.132581219del , CM000671.1:g.132581219del	GRCh37
NC_000009.10:g.131621040del	NCBI36
NG_008049.1:g.10227del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.445-16del MANE Select	ENSP00000345719.4:n.445-16del
ENST00000651202.1:c.541-16del	ENSP00000498222.1:n.541-16del
ENST00000351698.4:c.445-16del	ENSP00000345719.4:n.445-16del
ENST00000473604.2:n.555-16del
NM_000113.2:c.445-16del	NP_000104.1:n.445-16del
XR_929731.1:n.605-16del
XR_929731.3:n.473-16del
NM_000113.3:c.445-16del MANE Select	NP_000104.1:n.445-16del