Canonical Allele Identifier: CA2786061982

Gene: TOR1A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129818923_129818924insTACAAGGTGATGTTTGAAGCATGTGGAAAGTGCAATGTGGCCACAAACAGGTGGACATAGTCACTGTTCAGACCACCCTCGTAAATATTCTCTGCGATGATCTTGCTGACGA , CM000671.2:g.129818923_129818924insTACAAGGTGATGTTTGAAGCATGTGGAAAGTGCAATGTGGCCACAAACAGGTGGACATAGTCACTGTTCAGACCACCCTCGTAAATATTCTCTGCGATGATCTTGCTGACGA	GRCh38
NC_000009.11:g.132581202_132581203insTACAAGGTGATGTTTGAAGCATGTGGAAAGTGCAATGTGGCCACAAACAGGTGGACATAGTCACTGTTCAGACCACCCTCGTAAATATTCTCTGCGATGATCTTGCTGACGA , CM000671.1:g.132581202_132581203insTACAAGGTGATGTTTGAAGCATGTGGAAAGTGCAATGTGGCCACAAACAGGTGGACATAGTCACTGTTCAGACCACCCTCGTAAATATTCTCTGCGATGATCTTGCTGACGA	GRCh37
NC_000009.10:g.131621023_131621024insTACAAGGTGATGTTTGAAGCATGTGGAAAGTGCAATGTGGCCACAAACAGGTGGACATAGTCACTGTTCAGACCACCCTCGTAAATATTCTCTGCGATGATCTTGCTGACGA	NCBI36
NG_008049.1:g.10239_10240insTCGTCAGCAAGATCATCGCAGAGAATATTTACGAGGGTGGTCTGAACAGTGACTATGTCCACCTGTTTGTGGCCACATTGCACTTTCCACATGCTTCAAACATCACCTTGTA

Transcript Alleles

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