Canonical Allele Identifier: CA1880971290
Gene: TOR1A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813944_129813945delinsCA , CM000671.2:g.129813944_129813945delinsCA GRCh38
NC_000009.11:g.132576223_132576224delinsCA , CM000671.1:g.132576223_132576224delinsCA GRCh37
NC_000009.10:g.131616044_131616045delinsCA NCBI36
NG_008049.1:g.15218_15219delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.*27_*28delinsTG MANE Select ENSP00000345719.4:n.*27_*28delinsTG
ENST00000651202.1:c.*294_*295delinsTG ENSP00000498222.1:n.*294_*295delinsTG
ENST00000351698.4:c.*27_*28delinsTG ENSP00000345719.4:n.*27_*28delinsTG
ENST00000474192.1:n.610_611delinsTG
NM_000113.2:c.*27_*28delinsTG NP_000104.1:n.*27_*28delinsTG
XR_929731.3:n.1221_1222delinsTG
NM_000113.3:c.*27_*28delinsTG MANE Select NP_000104.1:n.*27_*28delinsTG
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