Canonical Allele Identifier: CA915941585

Gene: STAG1

Linked Data

• ClinVar Variation Id: 817914
• ClinVar RCV Id: RCV001009143
• dbSNP Id: rs1576367919

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136338428_136338431del , CM000665.2:g.136338428_136338431del	GRCh38
NC_000003.11:g.136057270_136057273del , CM000665.1:g.136057270_136057273del	GRCh37
NC_000003.10:g.137539960_137539963del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383202.7:c.3697_3700del MANE Select	ENSP00000372689.2:p.Arg1233LeufsTer3
ENST00000236698.9:c.3586_3589del	ENSP00000236698.5:p.Arg1196LeufsTer3
ENST00000383202.6:c.3697_3700del	ENSP00000372689.2:p.Arg1233LeufsTer3
ENST00000434713.6:c.2917_2920del	ENSP00000404396.2:p.Arg973LeufsTer3
ENST00000483235.5:c.*3687_*3690del	ENSP00000419093.1:n.*3687_*3690del
ENST00000629124.2:c.*3336_*3339del	ENSP00000486745.1:n.*3336_*3339del
NM_005862.2:c.3697_3700del	NP_005853.2:p.Arg1233LeufsTer3
XM_011512329.1:c.3286_3289del	XP_011510631.1:p.Arg1096LeufsTer3
XM_011512330.1:c.3286_3289del	XP_011510632.1:p.Arg1096LeufsTer3
XM_011512331.1:c.3286_3289del	XP_011510633.1:p.Arg1096LeufsTer3
XM_011512332.1:c.3019_3022del	XP_011510634.1:p.Arg1007LeufsTer3
XM_011512333.1:c.3286_3289del	XP_011510635.1:p.Arg1096LeufsTer3
XM_011512329.2:c.3286_3289del	XP_011510631.1:p.Arg1096LeufsTer3
XM_011512331.2:c.3286_3289del	XP_011510633.1:p.Arg1096LeufsTer3
XM_017005523.1:c.3286_3289del	XP_016861012.1:p.Arg1096LeufsTer3
XM_017005524.2:c.3019_3022del	XP_016861013.1:p.Arg1007LeufsTer3
XM_017005525.1:c.2386_2389del	XP_016861014.1:p.Arg796LeufsTer3
NM_005862.3:c.3697_3700del MANE Select	NP_005853.2:p.Arg1233LeufsTer3