Canonical Allele Identifier: CA2692045952

Gene: TOR1A

Linked Data

• gnomAD v4: 9-129819024-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129819025del , CM000671.2:g.129819025del	GRCh38
NC_000009.11:g.132581304del , CM000671.1:g.132581304del	GRCh37
NC_000009.10:g.131621125del	NCBI36
NG_008049.1:g.10138del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.445-105del MANE Select	ENSP00000345719.4:n.445-105del
ENST00000651202.1:c.541-105del	ENSP00000498222.1:n.541-105del
ENST00000351698.4:c.445-105del	ENSP00000345719.4:n.445-105del
ENST00000473604.2:n.555-105del
NM_000113.2:c.445-105del	NP_000104.1:n.445-105del
XR_929731.1:n.605-105del
XR_929731.3:n.473-105del
NM_000113.3:c.445-105del MANE Select	NP_000104.1:n.445-105del