Canonical Allele Identifier: CA1880971301
Gene: TOR1A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813949_129813950delinsAC , CM000671.2:g.129813949_129813950delinsAC GRCh38
NC_000009.11:g.132576228_132576229delinsAC , CM000671.1:g.132576228_132576229delinsAC GRCh37
NC_000009.10:g.131616049_131616050delinsAC NCBI36
NG_008049.1:g.15213_15214delinsGT

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.*22_*23delinsGT MANE Select ENSP00000345719.4:n.*22_*23delinsGT
ENST00000651202.1:c.*289_*290delinsGT ENSP00000498222.1:n.*289_*290delinsGT
ENST00000351698.4:c.*22_*23delinsGT ENSP00000345719.4:n.*22_*23delinsGT
ENST00000474192.1:n.605_606delinsGT
NM_000113.2:c.*22_*23delinsGT NP_000104.1:n.*22_*23delinsGT
XR_929731.3:n.1216_1217delinsGT
NM_000113.3:c.*22_*23delinsGT MANE Select NP_000104.1:n.*22_*23delinsGT
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