Canonical Allele Identifier: CA1880978967
Gene: TOR1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129819073_129819077delinsACCCC , CM000671.2:g.129819073_129819077delinsACCCC GRCh38
NC_000009.11:g.132581352_132581356delinsACCCC , CM000671.1:g.132581352_132581356delinsACCCC GRCh37
NC_000009.10:g.131621173_131621177delinsACCCC NCBI36
NG_008049.1:g.10086_10090delinsGGGGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.445-157_445-153delinsGGGGT MANE Select ENSP00000345719.4:n.445-157_445-153delinsGGGGT
ENST00000651202.1:c.541-157_541-153delinsGGGGT ENSP00000498222.1:n.541-157_541-153delinsGGGGT
ENST00000351698.4:c.445-157_445-153delinsGGGGT ENSP00000345719.4:n.445-157_445-153delinsGGGGT
ENST00000473604.2:n.555-157_555-153delinsGGGGT
NM_000113.2:c.445-157_445-153delinsGGGGT NP_000104.1:n.445-157_445-153delinsGGGGT
XR_929731.1:n.605-157_605-153delinsGGGGT
XR_929731.3:n.473-157_473-153delinsGGGGT
NM_000113.3:c.445-157_445-153delinsGGGGT MANE Select NP_000104.1:n.445-157_445-153delinsGGGGT