Canonical Allele Identifier: CA658824898

Gene: TGM1

Linked Data

• ClinVar Variation Id: 557197
• ClinVar RCV Id: RCV000673305
• dbSNP Id: rs1555306172
• MyVariant Identifiers: chr14:g.24259191_24259192insGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24259192_24259193insAG , CM000676.2:g.24259192_24259193insAG	GRCh38
NC_000014.8:g.24728398_24728399insAG , CM000676.1:g.24728398_24728399insAG	GRCh37
NC_000014.7:g.23798238_23798239insAG	NCBI36
NG_007150.1:g.8975_8976insTC
NG_007150.2:g.8975_8976insTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206765.11:c.1042_1043insTC MANE Select	ENSP00000206765.6:p.Arg348LeufsTer?
ENST00000206765.10:c.1042_1043insTC	ENSP00000206765.6:p.Arg348LeufsTer?
ENST00000544573.5:c.-28-804_-28-803insTC	ENSP00000439446.1:n.-28-804_-28-803insTC
ENST00000559136.1:c.115_116insTC	ENSP00000453337.1:p.Arg39LeufsTer?
NM_000359.2:c.1042_1043insTC	NP_000350.1:p.Arg348LeufsTer?
NM_000359.3:c.1042_1043insTC MANE Select	NP_000350.1:p.Arg348LeufsTer?