Canonical Allele Identifier: CA2786061662
Gene: TOR1A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814053_129814055del , CM000671.2:g.129814053_129814055del GRCh38
NC_000009.11:g.132576332_132576334del , CM000671.1:g.132576332_132576334del GRCh37
NC_000009.10:g.131616153_131616155del NCBI36
NG_008049.1:g.15110_15112del

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.918_920del MANE Select ENSP00000345719.4:p.Phe307del
ENST00000651202.1:c.*186_*188del ENSP00000498222.1:n.*186_*188del
ENST00000351698.4:c.918_920del ENSP00000345719.4:p.Phe307del
ENST00000474192.1:n.502_504del
NM_000113.2:c.918_920del NP_000104.1:p.Phe307del
XR_929731.1:n.1245_1247del
XR_929731.3:n.1113_1115del
NM_000113.3:c.918_920del MANE Select NP_000104.1:p.Phe307del
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