Canonical Allele Identifier: CA1880978784
Gene: TOR1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818927_129818928delinsTA , CM000671.2:g.129818927_129818928delinsTA GRCh38
NC_000009.11:g.132581206_132581207delinsTA , CM000671.1:g.132581206_132581207delinsTA GRCh37
NC_000009.10:g.131621027_131621028delinsTA NCBI36
NG_008049.1:g.10235_10236delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.445-8_445-7delinsTA MANE Select ENSP00000345719.4:n.445-8_445-7delinsTA
ENST00000651202.1:c.541-8_541-7delinsTA ENSP00000498222.1:n.541-8_541-7delinsTA
ENST00000351698.4:c.445-8_445-7delinsTA ENSP00000345719.4:n.445-8_445-7delinsTA
ENST00000473604.2:n.555-8_555-7delinsTA
NM_000113.2:c.445-8_445-7delinsTA NP_000104.1:n.445-8_445-7delinsTA
XR_929731.1:n.605-8_605-7delinsTA
XR_929731.3:n.473-8_473-7delinsTA
NM_000113.3:c.445-8_445-7delinsTA MANE Select NP_000104.1:n.445-8_445-7delinsTA