Canonical Allele Identifier: CA5298154

Gene: SETX

Linked Data

• ClinVar Variation Id: 448306
• ClinVar RCV Id: RCV000517034 ; RCV001255858 ; RCV001851460 ; RCV003233668 ; RCV003233667
• dbSNP Id: rs774123592
• ExAC: 9:135224798 CCAA / C
• gnomAD v2: 9-135224798-CCAA-C
• gnomAD v4: 9-132349411-CCAA-C
• MyVariant Identifiers: chr9:g.135224799_135224801del (hg19) ; chr9:g.132349412_132349414del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132349417_132349419del , CM000671.2:g.132349417_132349419del	GRCh38
NC_000009.11:g.135224804_135224806del , CM000671.1:g.135224804_135224806del	GRCh37
NC_000009.10:g.134214625_134214627del	NCBI36
NG_007946.1:g.10572_10574del , LRG_268:g.10572_10574del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224140.6:c.15_17del MANE Select	ENSP00000224140.5:p.Cys5del
ENST00000224140.5:c.15_17del	ENSP00000224140.5:p.Cys5del
NM_015046.5:c.15_17del , LRG_268t1:c.15_17del	NP_055861.3:p.Cys5del
XM_005272171.1:c.15_17del	XP_005272228.1:p.Cys5del
XM_005272172.1:c.15_17del	XP_005272229.1:p.Cys5del
XM_005272173.1:c.15_17del	XP_005272230.1:p.Cys5del
XM_011518404.1:c.15_17del	XP_011516706.1:p.Cys5del
XM_011518405.1:c.15_17del	XP_011516707.1:p.Cys5del
XM_011518406.1:c.15_17del	XP_011516708.1:p.Cys5del
XM_011518407.1:c.15_17del	XP_011516709.1:p.Cys5del
XM_011518408.1:c.15_17del	XP_011516710.1:p.Cys5del
XR_929739.1:n.199_201del
NM_001351527.1:c.15_17del	NP_001338456.1:p.Cys5del
NM_001351528.1:c.15_17del	NP_001338457.1:p.Cys5del
NM_015046.6:c.15_17del	NP_055861.3:p.Cys5del
XM_005272172.3:c.15_17del	XP_005272229.1:p.Cys5del
XM_005272173.3:c.15_17del	XP_005272230.1:p.Cys5del
XM_011518404.3:c.15_17del	XP_011516706.1:p.Cys5del
XM_011518405.3:c.15_17del	XP_011516707.1:p.Cys5del
XM_011518406.2:c.15_17del	XP_011516708.1:p.Cys5del
XM_011518408.3:c.15_17del	XP_011516710.1:p.Cys5del
XR_001746251.1:n.199_201del
XR_929739.2:n.199_201del
NM_015046.7:c.15_17del MANE Select	NP_055861.3:p.Cys5del
NM_001351528.2:c.15_17del	NP_001338457.1:p.Cys5del
NM_001351527.2:c.15_17del	NP_001338456.1:p.Cys5del