Canonical Allele Identifier: CA16042882
Gene: TGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 372530
ClinVar RCV Id: RCV000414244 RCV000782370 RCV001836809
dbSNP Id: rs1057517836
gnomAD v4: 14-24261795-G-GTACTCATACT
MyVariant Identifiers: chr14:g.24731002_24731011dupTACTCATACT (hg19) chr14:g.24731001_24731002insTACTCATACT (hg19) chr14:g.24261796_24261805dupTACTCATACT (hg38) chr14:g.24261795_24261796insTACTCATACT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24261796_24261805dup , CM000676.2:g.24261796_24261805dup GRCh38
NC_000014.8:g.24731002_24731011dup , CM000676.1:g.24731002_24731011dup GRCh37
NC_000014.7:g.23800842_23800851dup NCBI36
NG_007150.1:g.6362_6371dup
NG_007150.2:g.6362_6371dup

Transcript Alleles

HGVS Amino-acid change
ENST00000206765.11:c.398_407dup MANE Select ENSP00000206765.6:p.Tyr136Ter
ENST00000206765.10:c.398_407dup ENSP00000206765.6:p.Tyr136Ter
ENST00000544573.5:c.-29+322_-29+331dup ENSP00000439446.1:n.-29+322_-29+331dup
NM_000359.2:c.398_407dup NP_000350.1:p.Tyr136Ter
NM_000359.3:c.398_407dup MANE Select NP_000350.1:p.Tyr136Ter
Search 100 bp 5'
Search 100 bp 3'