Canonical Allele Identifier: CA5278505
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs761764499
ExAC: 9:132576301 T / TATCTGAGAAA
gnomAD v2: 9-132576301-T-TATCTGAGAAA
gnomAD v3: 9-129814022-T-TATCTGAGAAA
gnomAD v4: 9-129814022-T-TATCTGAGAAA
MyVariant Identifiers: chr9:g.132576301_132576302insATCTGAGAAA (hg19) chr9:g.129814022_129814023insATCTGAGAAA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814024_129814033dup , CM000671.2:g.129814024_129814033dup GRCh38
NC_000009.11:g.132576303_132576312dup , CM000671.1:g.132576303_132576312dup GRCh37
NC_000009.10:g.131616124_131616133dup NCBI36
NG_008049.1:g.15131_15140dup

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.939_948dup MANE Select ENSP00000345719.4:p.Lys317PhefsTer4
ENST00000651202.1:c.*207_*216dup ENSP00000498222.1:n.*207_*216dup
ENST00000351698.4:c.939_948dup ENSP00000345719.4:p.Lys317PhefsTer4
ENST00000474192.1:n.523_532dup
NM_000113.2:c.939_948dup NP_000104.1:p.Lys317PhefsTer4
XR_929731.3:n.1134_1143dup
NM_000113.3:c.939_948dup MANE Select NP_000104.1:p.Lys317PhefsTer4
Search 100 bp 5'
Search 100 bp 3'