Canonical Allele Identifier: CA2567354705

Gene: TOR1A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129818970_129818971insTTCATATTTG , CM000671.2:g.129818970_129818971insTTCATATTTG	GRCh38
NC_000009.11:g.132581249_132581250insTTCATATTTG , CM000671.1:g.132581249_132581250insTTCATATTTG	GRCh37
NC_000009.10:g.131621070_131621071insTTCATATTTG	NCBI36
NG_008049.1:g.10192_10193insCAAATATGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.445-51_445-50insCAAATATGAA MANE Select	ENSP00000345719.4:n.445-51_445-50insCAAATATGAA
ENST00000651202.1:c.541-51_541-50insCAAATATGAA	ENSP00000498222.1:n.541-51_541-50insCAAATATGAA
ENST00000351698.4:c.445-51_445-50insCAAATATGAA	ENSP00000345719.4:n.445-51_445-50insCAAATATGAA
ENST00000473604.2:n.555-51_555-50insCAAATATGAA
NM_000113.2:c.445-51_445-50insCAAATATGAA	NP_000104.1:n.445-51_445-50insCAAATATGAA
XR_929731.1:n.605-51_605-50insCAAATATGAA
XR_929731.3:n.473-51_473-50insCAAATATGAA
NM_000113.3:c.445-51_445-50insCAAATATGAA MANE Select	NP_000104.1:n.445-51_445-50insCAAATATGAA