Canonical Allele Identifier: CA10626574
Gene: TOR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 365222
ClinVar RCV Id: RCV000324211
dbSNP Id: rs60745320
gnomAD v2: 9-132575835-A-AC
gnomAD v3: 9-129813556-A-AC
gnomAD v4: 9-129813556-A-AC
MyVariant Identifiers: chr9:g.132575835_132575836insC (hg19) chr9:g.132575836_132575839delinsCACAC (hg19) chr9:g.129813556_129813557insC (hg38) chr9:g.129813557_129813560delinsCACAC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813556_129813557insC , CM000671.2:g.129813556_129813557insC GRCh38
NC_000009.11:g.132575835_132575836insC , CM000671.1:g.132575835_132575836insC GRCh37
NC_000009.10:g.131615656_131615657insC NCBI36
NG_008049.1:g.15606_15607insG

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.*415_*416insG MANE Select ENSP00000345719.4:n.*415_*416insG
ENST00000651202.1:c.*682_*683insG ENSP00000498222.1:n.*682_*683insG
ENST00000351698.4:c.*415_*416insG ENSP00000345719.4:n.*415_*416insG
NM_000113.2:c.*415_*416insG NP_000104.1:n.*415_*416insG
XR_929731.3:n.1609_1610insG
NM_000113.3:c.*415_*416insG MANE Select NP_000104.1:n.*415_*416insG
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