Canonical Allele Identifier: CA2786061681

Gene: TOR1A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129814335_129814336del , CM000671.2:g.129814335_129814336del	GRCh38
NC_000009.11:g.132576614_132576615del , CM000671.1:g.132576614_132576615del	GRCh37
NC_000009.10:g.131616435_131616436del	NCBI36
NG_008049.1:g.14827_14828del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.749-114_749-113del MANE Select	ENSP00000345719.4:n.749-114_749-113del
ENST00000651202.1:c.*17-114_*17-113del	ENSP00000498222.1:n.*17-114_*17-113del
ENST00000351698.4:c.749-114_749-113del	ENSP00000345719.4:n.749-114_749-113del
ENST00000474192.1:n.333-114_333-113del
NM_000113.2:c.749-114_749-113del	NP_000104.1:n.749-114_749-113del
XR_929731.1:n.1076-114_1076-113del
XR_929731.3:n.944-114_944-113del
NM_000113.3:c.749-114_749-113del MANE Select	NP_000104.1:n.749-114_749-113del