Canonical Allele Identifier: CA1880970748
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs2030948420
gnomAD v4: 9-129813530-GTAA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813535_129813537del , CM000671.2:g.129813535_129813537del GRCh38
NC_000009.11:g.132575814_132575816del , CM000671.1:g.132575814_132575816del GRCh37
NC_000009.10:g.131615635_131615637del NCBI36
NG_008049.1:g.15630_15632del

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.*439_*441del MANE Select ENSP00000345719.4:n.*439_*441del
ENST00000651202.1:c.*706_*708del ENSP00000498222.1:n.*706_*708del
ENST00000351698.4:c.*439_*441del ENSP00000345719.4:n.*439_*441del
NM_000113.2:c.*439_*441del NP_000104.1:n.*439_*441del
XR_929731.3:n.1633_1635del
NM_000113.3:c.*439_*441del MANE Select NP_000104.1:n.*439_*441del
Search 100 bp 5'
Search 100 bp 3'