Canonical Allele Identifier: CA590944154
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs1441321955
gnomAD v2: 9-132576543-A-AC
gnomAD v3: 9-129814264-A-AC
gnomAD v4: 9-129814264-A-AC
MyVariant Identifiers: chr9:g.132576543_132576544insC (hg19) chr9:g.129814264_129814265insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814266dup , CM000671.2:g.129814266dup GRCh38
NC_000009.11:g.132576545dup , CM000671.1:g.132576545dup GRCh37
NC_000009.10:g.131616366dup NCBI36
NG_008049.1:g.14898dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.749-43dup MANE Select ENSP00000345719.4:n.749-43dup
ENST00000651202.1:c.*17-43dup ENSP00000498222.1:n.*17-43dup
ENST00000351698.4:c.749-43dup ENSP00000345719.4:n.749-43dup
ENST00000474192.1:n.333-43dup
NM_000113.2:c.749-43dup NP_000104.1:n.749-43dup
XR_929731.1:n.1076-43dup
XR_929731.3:n.944-43dup
NM_000113.3:c.749-43dup MANE Select NP_000104.1:n.749-43dup
Search 100 bp 5'
Search 100 bp 3'