Canonical Allele Identifier: CA2692045621
Gene: TOR1A HGNC NCBI

Linked Data

gnomAD v4: 9-129814325-T-TCTACTGGGGGTCACCTATCCATGCCACACACAC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814341_129814373dup , CM000671.2:g.129814341_129814373dup GRCh38
NC_000009.11:g.132576620_132576652dup , CM000671.1:g.132576620_132576652dup GRCh37
NC_000009.10:g.131616441_131616473dup NCBI36
NG_008049.1:g.14805_14837dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.749-136_749-104dup MANE Select ENSP00000345719.4:n.749-136_749-104dup
ENST00000651202.1:c.*17-136_*17-104dup ENSP00000498222.1:n.*17-136_*17-104dup
ENST00000351698.4:c.749-136_749-104dup ENSP00000345719.4:n.749-136_749-104dup
ENST00000474192.1:n.333-136_333-104dup
NM_000113.2:c.749-136_749-104dup NP_000104.1:n.749-136_749-104dup
XR_929731.1:n.1076-136_1076-104dup
XR_929731.3:n.944-136_944-104dup
NM_000113.3:c.749-136_749-104dup MANE Select NP_000104.1:n.749-136_749-104dup
Search 100 bp 5'
Search 100 bp 3'