Canonical Allele Identifier: CA2692045572
Gene: TOR1A HGNC NCBI

Linked Data

gnomAD v4: 9-129814061-TCTCCTCA-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814062_129814068del , CM000671.2:g.129814062_129814068del GRCh38
NC_000009.11:g.132576341_132576347del , CM000671.1:g.132576341_132576347del GRCh37
NC_000009.10:g.131616162_131616168del NCBI36
NG_008049.1:g.15095_15101del

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.903_909del MANE Select ENSP00000345719.4:p.Glu302Ter
ENST00000651202.1:c.*171_*177del ENSP00000498222.1:n.*171_*177del
ENST00000351698.4:c.903_909del ENSP00000345719.4:p.Glu302Ter
ENST00000474192.1:n.487_493del
NM_000113.2:c.903_909del NP_000104.1:p.Glu302Ter
XR_929731.1:n.1230_1236del
XR_929731.3:n.1098_1104del
NM_000113.3:c.903_909del MANE Select NP_000104.1:p.Glu302Ter
Search 100 bp 5'
Search 100 bp 3'