Canonical Allele Identifier: CA2692045243
Gene: TOR1A HGNC NCBI

Linked Data

gnomAD v4: 9-129813548-T-TAA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813556_129813557dup , CM000671.2:g.129813556_129813557dup GRCh38
NC_000009.11:g.132575835_132575836dup , CM000671.1:g.132575835_132575836dup GRCh37
NC_000009.10:g.131615656_131615657dup NCBI36
NG_008049.1:g.15613_15614dup

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.*422_*423dup MANE Select ENSP00000345719.4:n.*422_*423dup
ENST00000651202.1:c.*689_*690dup ENSP00000498222.1:n.*689_*690dup
ENST00000351698.4:c.*422_*423dup ENSP00000345719.4:n.*422_*423dup
NM_000113.2:c.*422_*423dup NP_000104.1:n.*422_*423dup
XR_929731.3:n.1616_1617dup
NM_000113.3:c.*422_*423dup MANE Select NP_000104.1:n.*422_*423dup
Search 100 bp 5'
Search 100 bp 3'