Canonical Allele Identifier: CA1880978793

Gene: TOR1A

Linked Data

• dbSNP Id: rs754727494
• gnomAD v4: 9-129818927-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129818931del , CM000671.2:g.129818931del	GRCh38
NC_000009.11:g.132581210del , CM000671.1:g.132581210del	GRCh37
NC_000009.10:g.131621031del	NCBI36
NG_008049.1:g.10235del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.445-8del MANE Select	ENSP00000345719.4:n.445-8del
ENST00000651202.1:c.541-8del	ENSP00000498222.1:n.541-8del
ENST00000351698.4:c.445-8del	ENSP00000345719.4:n.445-8del
ENST00000473604.2:n.555-8del
NM_000113.2:c.445-8del	NP_000104.1:n.445-8del
XR_929731.1:n.605-8del
XR_929731.3:n.473-8del
NM_000113.3:c.445-8del MANE Select	NP_000104.1:n.445-8del