Canonical Allele Identifier: CA5278533
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs761056519
ExAC: 9:132576456 TAATC / T
gnomAD v2: 9-132576456-TAATC-T
gnomAD v3: 9-129814177-TAATC-T
gnomAD v4: 9-129814177-TAATC-T
MyVariant Identifiers: chr9:g.132576457_132576460del (hg19) chr9:g.129814178_129814181del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814181_129814184del , CM000671.2:g.129814181_129814184del GRCh38
NC_000009.11:g.132576460_132576463del , CM000671.1:g.132576460_132576463del GRCh37
NC_000009.10:g.131616281_131616284del NCBI36
NG_008049.1:g.14982_14985del

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.790_793del MANE Select ENSP00000345719.4:p.Asp264IlefsTer13
ENST00000651202.1:c.*58_*61del ENSP00000498222.1:n.*58_*61del
ENST00000351698.4:c.790_793del ENSP00000345719.4:p.Asp264IlefsTer13
ENST00000474192.1:n.374_377del
NM_000113.2:c.790_793del NP_000104.1:p.Asp264IlefsTer13
XR_929731.1:n.1117_1120del
XR_929731.3:n.985_988del
NM_000113.3:c.790_793del MANE Select NP_000104.1:p.Asp264IlefsTer13
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