Canonical Allele Identifier: CA2579478295

Gene: TOR1A

Linked Data

• gnomAD v4: 9-129814226-GGAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129814233_129814235del , CM000671.2:g.129814233_129814235del	GRCh38
NC_000009.11:g.132576512_132576514del , CM000671.1:g.132576512_132576514del	GRCh37
NC_000009.10:g.131616333_131616335del	NCBI36
NG_008049.1:g.14934_14936del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.749-7_749-5del MANE Select	ENSP00000345719.4:n.749-7_749-5del
ENST00000651202.1:c.*17-7_*17-5del	ENSP00000498222.1:n.*17-7_*17-5del
ENST00000351698.4:c.749-7_749-5del	ENSP00000345719.4:n.749-7_749-5del
ENST00000474192.1:n.333-7_333-5del
NM_000113.2:c.749-7_749-5del	NP_000104.1:n.749-7_749-5del
XR_929731.1:n.1076-7_1076-5del
XR_929731.3:n.944-7_944-5del
NM_000113.3:c.749-7_749-5del MANE Select	NP_000104.1:n.749-7_749-5del