Canonical Allele Identifier: CA590684968
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs1211938825
gnomAD v2: 9-132575833-A-AC
gnomAD v3: 9-129813554-A-AC
gnomAD v4: 9-129813554-A-AC
MyVariant Identifiers: chr9:g.132575833_132575834insC (hg19) chr9:g.129813554_129813555insC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813554_129813555insC , CM000671.2:g.129813554_129813555insC GRCh38
NC_000009.11:g.132575833_132575834insC , CM000671.1:g.132575833_132575834insC GRCh37
NC_000009.10:g.131615654_131615655insC NCBI36
NG_008049.1:g.15608_15609insG

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.*417_*418insG MANE Select ENSP00000345719.4:n.*417_*418insG
ENST00000651202.1:c.*684_*685insG ENSP00000498222.1:n.*684_*685insG
ENST00000351698.4:c.*417_*418insG ENSP00000345719.4:n.*417_*418insG
NM_000113.2:c.*417_*418insG NP_000104.1:n.*417_*418insG
XR_929731.3:n.1611_1612insG
NM_000113.3:c.*417_*418insG MANE Select NP_000104.1:n.*417_*418insG
Search 100 bp 5'
Search 100 bp 3'