Canonical Allele Identifier: CA1880970715
Gene: TOR1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813519_129813521delinsTCA , CM000671.2:g.129813519_129813521delinsTCA GRCh38
NC_000009.11:g.132575798_132575800delinsTCA , CM000671.1:g.132575798_132575800delinsTCA GRCh37
NC_000009.10:g.131615619_131615621delinsTCA NCBI36
NG_008049.1:g.15642_15644delinsTGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.*451_*453delinsTGA MANE Select ENSP00000345719.4:n.*451_*453delinsTGA
ENST00000651202.1:c.*718_*720delinsTGA ENSP00000498222.1:n.*718_*720delinsTGA
ENST00000351698.4:c.*451_*453delinsTGA ENSP00000345719.4:n.*451_*453delinsTGA
NM_000113.2:c.*451_*453delinsTGA NP_000104.1:n.*451_*453delinsTGA
XR_929731.3:n.1645_1647delinsTGA
NM_000113.3:c.*451_*453delinsTGA MANE Select NP_000104.1:n.*451_*453delinsTGA