Canonical Allele Identifier: CA2692045606

Gene: TOR1A

Linked Data

• gnomAD v4: 9-129814297-A-AAAAAAATTAGCCAGGCATGGTGGCGCAAGCCTGTGGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129814297_129814298insAAAAAATTAGCCAGGCATGGTGGCGCAAGCCTGTGGTT , CM000671.2:g.129814297_129814298insAAAAAATTAGCCAGGCATGGTGGCGCAAGCCTGTGGTT	GRCh38
NC_000009.11:g.132576576_132576577insAAAAAATTAGCCAGGCATGGTGGCGCAAGCCTGTGGTT , CM000671.1:g.132576576_132576577insAAAAAATTAGCCAGGCATGGTGGCGCAAGCCTGTGGTT	GRCh37
NC_000009.10:g.131616397_131616398insAAAAAATTAGCCAGGCATGGTGGCGCAAGCCTGTGGTT	NCBI36
NG_008049.1:g.14865_14866insAACCACAGGCTTGCGCCACCATGCCTGGCTAATTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.749-76_749-75insAACCACAGGCTTGCGCCACCATGCCTGGCTAATTTTTT MANE Select	ENSP00000345719.4:n.749-76_749-75insAACCACAGGCTTGCGCCACCATGCC...
ENST00000651202.1:c.*17-76_*17-75insAACCACAGGCTTGCGCCACCATGCCTGGCTAATTTTTT	ENSP00000498222.1:n.*17-76_*17-75insAACCACAGGCTTGCGCCACCATGCC...
ENST00000351698.4:c.749-76_749-75insAACCACAGGCTTGCGCCACCATGCCTGGCTAATTTTTT	ENSP00000345719.4:n.749-76_749-75insAACCACAGGCTTGCGCCACCATGCC...
ENST00000474192.1:n.333-76_333-75insAACCACAGGCTTGCGCCACCATGCCTGGCTAATTTTTT
NM_000113.2:c.749-76_749-75insAACCACAGGCTTGCGCCACCATGCCTGGCTAATTTTTT	NP_000104.1:n.749-76_749-75insAACCACAGGCTTGCGCCACCATGCCTGGCTA...
XR_929731.1:n.1076-76_1076-75insAACCACAGGCTTGCGCCACCATGCCTGGCTAATTTTTT
XR_929731.3:n.944-76_944-75insAACCACAGGCTTGCGCCACCATGCCTGGCTAATTTTTT
NM_000113.3:c.749-76_749-75insAACCACAGGCTTGCGCCACCATGCCTGGCTAATTTTTT MANE Select	NP_000104.1:n.749-76_749-75insAACCACAGGCTTGCGCCACCATGCCTGGCTA...