Canonical Allele Identifier: CA5278543

Gene: TOR1A

Linked Data

• dbSNP Id: rs766674625
• ExAC: 9:132576516 C / CAAGGT
• gnomAD v2: 9-132576516-C-CAAGGT
• gnomAD v4: 9-129814237-C-CAAGGT
• MyVariant Identifiers: chr9:g.132576516_132576517insAAGGT (hg19) ; chr9:g.129814237_129814238insAAGGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129814238_129814242dup , CM000671.2:g.129814238_129814242dup	GRCh38
NC_000009.11:g.132576517_132576521dup , CM000671.1:g.132576517_132576521dup	GRCh37
NC_000009.10:g.131616338_131616342dup	NCBI36
NG_008049.1:g.14921_14925dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.749-20_749-16dup MANE Select	ENSP00000345719.4:n.749-20_749-16dup
ENST00000651202.1:c.*17-20_*17-16dup	ENSP00000498222.1:n.*17-20_*17-16dup
ENST00000351698.4:c.749-20_749-16dup	ENSP00000345719.4:n.749-20_749-16dup
ENST00000474192.1:n.333-20_333-16dup
NM_000113.2:c.749-20_749-16dup	NP_000104.1:n.749-20_749-16dup
XR_929731.1:n.1076-20_1076-16dup
XR_929731.3:n.944-20_944-16dup
NM_000113.3:c.749-20_749-16dup MANE Select	NP_000104.1:n.749-20_749-16dup