Canonical Allele Identifier: CA1880978886
Gene: TOR1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818979_129818982delinsCCTT , CM000671.2:g.129818979_129818982delinsCCTT GRCh38
NC_000009.11:g.132581258_132581261delinsCCTT , CM000671.1:g.132581258_132581261delinsCCTT GRCh37
NC_000009.10:g.131621079_131621082delinsCCTT NCBI36
NG_008049.1:g.10181_10184delinsAAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.445-62_445-59delinsAAGG MANE Select ENSP00000345719.4:n.445-62_445-59delinsAAGG
ENST00000651202.1:c.541-62_541-59delinsAAGG ENSP00000498222.1:n.541-62_541-59delinsAAGG
ENST00000351698.4:c.445-62_445-59delinsAAGG ENSP00000345719.4:n.445-62_445-59delinsAAGG
ENST00000473604.2:n.555-62_555-59delinsAAGG
NM_000113.2:c.445-62_445-59delinsAAGG NP_000104.1:n.445-62_445-59delinsAAGG
XR_929731.1:n.605-62_605-59delinsAAGG
XR_929731.3:n.473-62_473-59delinsAAGG
NM_000113.3:c.445-62_445-59delinsAAGG MANE Select NP_000104.1:n.445-62_445-59delinsAAGG