Canonical Allele Identifier: CA602163349

Gene: TREH

Linked Data

• dbSNP Id: rs1343430845
• gnomAD v2: 11-118530320-C-CGGTGGCTCT
• gnomAD v3: 11-118659611-C-CGGTGGCTCT
• gnomAD v4: 11-118659611-C-CGGTGGCTCT
• MyVariant Identifiers: chr11:g.118530320_118530321insGGTGGCTCT (hg19) ; chr11:g.118659611_118659612insGGTGGCTCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118659617_118659625dup , CM000673.2:g.118659617_118659625dup	GRCh38
NC_000011.9:g.118530326_118530334dup , CM000673.1:g.118530326_118530334dup	GRCh37
NC_000011.8:g.118035536_118035544dup	NCBI36
NG_023321.1:g.25053_25061dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264029.9:c.1320+127_1321-131dup MANE Select	ENSP00000264029.5:n.1320+127_1321-131dup
ENST00000264029.8:c.1320+127_1321-131dup	ENSP00000264029.5:n.1320+127_1321-131dup
ENST00000397925.2:c.1227+127_1228-131dup	ENSP00000381020.2:n.1227+127_1228-131dup
ENST00000613915.4:c.*1097+127_*1098-131dup	ENSP00000477923.1:n.*1097+127_*1098-131dup
NM_001301065.1:c.1227+127_1228-131dup	NP_001287994.1:n.1227+127_1228-131dup
NM_007180.2:c.1320+127_1321-131dup	NP_009111.2:n.1320+127_1321-131dup
XM_011542564.1:c.897+127_898-131dup	XP_011540866.1:n.897+127_898-131dup
NM_001301065.2:c.1227+127_1228-131dup	NP_001287994.1:n.1227+127_1228-131dup
NM_007180.3:c.1320+127_1321-131dup MANE Select	NP_009111.2:n.1320+127_1321-131dup