Canonical Allele Identifier: CA340352
Gene: TOR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 5180
ClinVar RCV Id: RCV001266579 RCV002504750 RCV003335014 RCV003421906
dbSNP Id: rs80358233
ExAC: 9:132576340 TCTC / T
gnomAD v2: 9-132576340-TCTC-T
gnomAD v3: 9-129814061-TCTC-T
gnomAD v4: 9-129814061-TCTC-T
MyVariant Identifiers: chr9:g.132576341_132576343del (hg19) chr9:g.129814062_129814064del (hg38)
PubMed: PMID:9288096 PMID:9576529 PMID:10435508 PMID:10541594 PMID:10627938 PMID:10814722 PMID:11973627 PMID:12481989 PMID:12975293 PMID:14711988 PMID:15136718 PMID:15505207 PMID:16275837 PMID:16364897 PMID:16682692 PMID:20301665 PMID:21168499 PMID:24930953 PMID:25403864
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814065_129814067del , CM000671.2:g.129814065_129814067del GRCh38
NC_000009.11:g.132576344_132576346del , CM000671.1:g.132576344_132576346del GRCh37
NC_000009.10:g.131616165_131616167del NCBI36
NG_008049.1:g.15099_15101del

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.907_909del MANE Select ENSP00000345719.4:p.Glu303del
ENST00000651202.1:c.*175_*177del ENSP00000498222.1:n.*175_*177del
ENST00000351698.4:c.907_909del ENSP00000345719.4:p.Glu303del
ENST00000474192.1:n.491_493del
NM_000113.2:c.907_909del NP_000104.1:p.Glu303del
XR_929731.1:n.1234_1236del
XR_929731.3:n.1102_1104del
NM_000113.3:c.907_909del MANE Select NP_000104.1:p.Glu303del
Search 100 bp 5'
Search 100 bp 3'