Canonical Allele Identifier: CA2692045600

Gene: TOR1A

Linked Data

• gnomAD v4: 9-129814285-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129814290del , CM000671.2:g.129814290del	GRCh38
NC_000009.11:g.132576569del , CM000671.1:g.132576569del	GRCh37
NC_000009.10:g.131616390del	NCBI36
NG_008049.1:g.14877del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.749-64del MANE Select	ENSP00000345719.4:n.749-64del
ENST00000651202.1:c.*17-64del	ENSP00000498222.1:n.*17-64del
ENST00000351698.4:c.749-64del	ENSP00000345719.4:n.749-64del
ENST00000474192.1:n.333-64del
NM_000113.2:c.749-64del	NP_000104.1:n.749-64del
XR_929731.1:n.1076-64del
XR_929731.3:n.944-64del
NM_000113.3:c.749-64del MANE Select	NP_000104.1:n.749-64del