Canonical Allele Identifier: CA612959287

Gene: TGM1

Linked Data

• dbSNP Id: rs1390087770
• gnomAD v2: 14-24728308-AGCACTG-A
• gnomAD v4: 14-24259102-AGCACTG-A
• MyVariant Identifiers: chr14:g.24728309_24728314del (hg19) ; chr14:g.24259103_24259108del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24259105_24259110del , CM000676.2:g.24259105_24259110del	GRCh38
NC_000014.8:g.24728311_24728316del , CM000676.1:g.24728311_24728316del	GRCh37
NC_000014.7:g.23798151_23798156del	NCBI36
NG_007150.1:g.9059_9064del
NG_007150.2:g.9059_9064del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206765.11:c.1126_1131del MANE Select	ENSP00000206765.6:p.Gln376_Cys377del
ENST00000206765.10:c.1126_1131del	ENSP00000206765.6:p.Gln376_Cys377del
ENST00000544573.5:c.-28-720_-28-715del	ENSP00000439446.1:n.-28-720_-28-715del
ENST00000559136.1:c.199_204del	ENSP00000453337.1:p.Gln67_Cys68del
NM_000359.2:c.1126_1131del	NP_000350.1:p.Gln376_Cys377del
NM_000359.3:c.1126_1131del MANE Select	NP_000350.1:p.Gln376_Cys377del