Canonical Allele Identifier: CA2786061981

Gene: TOR1A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129818922_129818923insTGTACAAGGTGATGTTTGAAGCATGTGGAAAGTGCAATGTGGCCACAAACAGGTGGACATAGTCACTGTTCAGACCACCCTCGTAAATATTCTCTGCGATGATCTTGCTGAC , CM000671.2:g.129818922_129818923insTGTACAAGGTGATGTTTGAAGCATGTGGAAAGTGCAATGTGGCCACAAACAGGTGGACATAGTCACTGTTCAGACCACCCTCGTAAATATTCTCTGCGATGATCTTGCTGAC	GRCh38
NC_000009.11:g.132581201_132581202insTGTACAAGGTGATGTTTGAAGCATGTGGAAAGTGCAATGTGGCCACAAACAGGTGGACATAGTCACTGTTCAGACCACCCTCGTAAATATTCTCTGCGATGATCTTGCTGAC , CM000671.1:g.132581201_132581202insTGTACAAGGTGATGTTTGAAGCATGTGGAAAGTGCAATGTGGCCACAAACAGGTGGACATAGTCACTGTTCAGACCACCCTCGTAAATATTCTCTGCGATGATCTTGCTGAC	GRCh37
NC_000009.10:g.131621022_131621023insTGTACAAGGTGATGTTTGAAGCATGTGGAAAGTGCAATGTGGCCACAAACAGGTGGACATAGTCACTGTTCAGACCACCCTCGTAAATATTCTCTGCGATGATCTTGCTGAC	NCBI36
NG_008049.1:g.10240_10241insGTCAGCAAGATCATCGCAGAGAATATTTACGAGGGTGGTCTGAACAGTGACTATGTCCACCTGTTTGTGGCCACATTGCACTTTCCACATGCTTCAAACATCACCTTGTACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.445-3_445-2insGTCAGCAAGATCATCGCAGAGAATATTTACGAGGGTGGTCTGAACAGTGACTATGTCCACCTGTTTGTGGCCACATTGCACTTTCCACATGCTTCAAACATCACCTTGTACA MANE Select	ENSP00000345719.4:n.445-3_445-2insGTCAGCAAGATCATCGCAGAGAATATT...
ENST00000651202.1:c.541-3_541-2insGTCAGCAAGATCATCGCAGAGAATATTTACGAGGGTGGTCTGAACAGTGACTATGTCCACCTGTTTGTGGCCACATTGCACTTTCCACATGCTTCAAACATCACCTTGTACA	ENSP00000498222.1:n.541-3_541-2insGTCAGCAAGATCATCGCAGAGAATATT...
ENST00000351698.4:c.445-3_445-2insGTCAGCAAGATCATCGCAGAGAATATTTACGAGGGTGGTCTGAACAGTGACTATGTCCACCTGTTTGTGGCCACATTGCACTTTCCACATGCTTCAAACATCACCTTGTACA	ENSP00000345719.4:n.445-3_445-2insGTCAGCAAGATCATCGCAGAGAATATT...
ENST00000473604.2:n.555-3_555-2insGTCAGCAAGATCATCGCAGAGAATATTTACGAGGGTGGTCTGAACAGTGACTATGTCCACCTGTTTGTGGCCACATTGCACTTTCCACATGCTTCAAACATCACCTTGTACA
NM_000113.2:c.445-3_445-2insGTCAGCAAGATCATCGCAGAGAATATTTACGAGGGTGGTCTGAACAGTGACTATGTCCACCTGTTTGTGGCCACATTGCACTTTCCACATGCTTCAAACATCACCTTGTACA	NP_000104.1:n.445-3_445-2insGTCAGCAAGATCATCGCAGAGAATATTTACGAG...
XR_929731.1:n.605-3_605-2insGTCAGCAAGATCATCGCAGAGAATATTTACGAGGGTGGTCTGAACAGTGACTATGTCCACCTGTTTGTGGCCACATTGCACTTTCCACATGCTTCAAACATCACCTTGTACA
XR_929731.3:n.473-3_473-2insGTCAGCAAGATCATCGCAGAGAATATTTACGAGGGTGGTCTGAACAGTGACTATGTCCACCTGTTTGTGGCCACATTGCACTTTCCACATGCTTCAAACATCACCTTGTACA
NM_000113.3:c.445-3_445-2insGTCAGCAAGATCATCGCAGAGAATATTTACGAGGGTGGTCTGAACAGTGACTATGTCCACCTGTTTGTGGCCACATTGCACTTTCCACATGCTTCAAACATCACCTTGTACA MANE Select	NP_000104.1:n.445-3_445-2insGTCAGCAAGATCATCGCAGAGAATATTTACGAG...