Canonical Allele Identifier: CA5278644
Gene: TOR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2740707
ClinVar RCV Id: RCV003587503
dbSNP Id: rs754727494
ExAC: 9:132581206 T / TA
gnomAD v2: 9-132581206-T-TA
gnomAD v3: 9-129818927-T-TA
gnomAD v4: 9-129818927-T-TA
MyVariant Identifiers: chr9:g.132581206_132581207insA (hg19) chr9:g.129818927_129818928insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818931dup , CM000671.2:g.129818931dup GRCh38
NC_000009.11:g.132581210dup , CM000671.1:g.132581210dup GRCh37
NC_000009.10:g.131621031dup NCBI36
NG_008049.1:g.10235dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.445-8dup MANE Select ENSP00000345719.4:n.445-8dup
ENST00000651202.1:c.541-8dup ENSP00000498222.1:n.541-8dup
ENST00000351698.4:c.445-8dup ENSP00000345719.4:n.445-8dup
ENST00000473604.2:n.555-8dup
NM_000113.2:c.445-8dup NP_000104.1:n.445-8dup
XR_929731.1:n.605-8dup
XR_929731.3:n.473-8dup
NM_000113.3:c.445-8dup MANE Select NP_000104.1:n.445-8dup
Search 100 bp 5'
Search 100 bp 3'