Canonical Allele Identifier: CA2692045311
Gene: TOR1A HGNC NCBI

Linked Data

gnomAD v4: 9-129813599-CAT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813601_129813602del , CM000671.2:g.129813601_129813602del GRCh38
NC_000009.11:g.132575880_132575881del , CM000671.1:g.132575880_132575881del GRCh37
NC_000009.10:g.131615701_131615702del NCBI36
NG_008049.1:g.15562_15563del

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.*371_*372del MANE Select ENSP00000345719.4:n.*371_*372del
ENST00000651202.1:c.*638_*639del ENSP00000498222.1:n.*638_*639del
ENST00000351698.4:c.*371_*372del ENSP00000345719.4:n.*371_*372del
NM_000113.2:c.*371_*372del NP_000104.1:n.*371_*372del
XR_929731.3:n.1565_1566del
NM_000113.3:c.*371_*372del MANE Select NP_000104.1:n.*371_*372del
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