Canonical Allele Identifier: CA1880971593
Gene: TOR1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814061_129814064delinsTCTC , CM000671.2:g.129814061_129814064delinsTCTC GRCh38
NC_000009.11:g.132576340_132576343delinsTCTC , CM000671.1:g.132576340_132576343delinsTCTC GRCh37
NC_000009.10:g.131616161_131616164delinsTCTC NCBI36
NG_008049.1:g.15099_15102delinsGAGA

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.907_910delinsGAGA MANE Select ENSP00000345719.4:p.Glu303=
ENST00000651202.1:c.*175_*178delinsGAGA ENSP00000498222.1:n.*175_*178delinsGAGA
ENST00000351698.4:c.907_910delinsGAGA ENSP00000345719.4:p.Glu303=
ENST00000474192.1:n.491_494delinsGAGA
NM_000113.2:c.907_910delinsGAGA NP_000104.1:p.Glu303=
XR_929731.1:n.1234_1237delinsGAGA
XR_929731.3:n.1102_1105delinsGAGA
NM_000113.3:c.907_910delinsGAGA MANE Select NP_000104.1:p.Glu303=