Canonical Allele Identifier: CA257898858

Gene: TGM1

Linked Data

• dbSNP Id: rs1043383334
• gnomAD v2: 14-24728641-GCT-G
• gnomAD v3: 14-24259435-GCT-G
• gnomAD v4: 14-24259435-GCT-G
• MyVariant Identifiers: chr14:g.24728642_24728643del (hg19) ; chr14:g.24259436_24259437del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24259438_24259439del , CM000676.2:g.24259438_24259439del	GRCh38
NC_000014.8:g.24728644_24728645del , CM000676.1:g.24728644_24728645del	GRCh37
NC_000014.7:g.23798484_23798485del	NCBI36
NG_007150.1:g.8730_8731del
NG_007150.2:g.8730_8731del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206765.11:c.985-188_985-187del MANE Select	ENSP00000206765.6:n.985-188_985-187del
ENST00000206765.10:c.985-188_985-187del	ENSP00000206765.6:n.985-188_985-187del
ENST00000544573.5:c.-28-1049_-28-1048del	ENSP00000439446.1:n.-28-1049_-28-1048del
ENST00000559136.1:c.58-188_58-187del	ENSP00000453337.1:n.58-188_58-187del
NM_000359.2:c.985-188_985-187del	NP_000350.1:n.985-188_985-187del
NM_000359.3:c.985-188_985-187del MANE Select	NP_000350.1:n.985-188_985-187del