Canonical Allele Identifier: CA2692045981

Gene: TOR1A

Linked Data

• gnomAD v4: 9-129819065-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129819067del , CM000671.2:g.129819067del	GRCh38
NC_000009.11:g.132581346del , CM000671.1:g.132581346del	GRCh37
NC_000009.10:g.131621167del	NCBI36
NG_008049.1:g.10097del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.445-146del MANE Select	ENSP00000345719.4:n.445-146del
ENST00000651202.1:c.541-146del	ENSP00000498222.1:n.541-146del
ENST00000351698.4:c.445-146del	ENSP00000345719.4:n.445-146del
ENST00000473604.2:n.555-146del
NM_000113.2:c.445-146del	NP_000104.1:n.445-146del
XR_929731.1:n.605-146del
XR_929731.3:n.473-146del
NM_000113.3:c.445-146del MANE Select	NP_000104.1:n.445-146del