Canonical Allele Identifier: CA5297283

Gene: SETX

Linked Data

• ClinVar Variation Id: 805415
• ClinVar RCV Id: RCV000992936 ; RCV002354901 ; RCV001858762
• dbSNP Id: rs769558791
• ExAC: 9:135202962 TTTC / T
• gnomAD v2: 9-135202962-TTTC-T
• gnomAD v3: 9-132327575-TTTC-T
• gnomAD v4: 9-132327575-TTTC-T
• MyVariant Identifiers: chr9:g.135202963_135202965del (hg19) ; chr9:g.132327576_132327578del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132327578_132327580del , CM000671.2:g.132327578_132327580del	GRCh38
NC_000009.11:g.135202965_135202967del , CM000671.1:g.135202965_135202967del	GRCh37
NC_000009.10:g.134192786_134192788del	NCBI36
NG_007946.1:g.32408_32410del , LRG_268:g.32408_32410del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224140.6:c.4020_4022del MANE Select	ENSP00000224140.5:p.Lys1341del
ENST00000224140.5:c.4020_4022del	ENSP00000224140.5:p.Lys1341del
NM_015046.5:c.4020_4022del , LRG_268t1:c.4020_4022del	NP_055861.3:p.Lys1341del
XM_005272171.1:c.4020_4022del	XP_005272228.1:p.Lys1341del
XM_005272172.1:c.4020_4022del	XP_005272229.1:p.Lys1341del
XM_005272173.1:c.4020_4022del	XP_005272230.1:p.Lys1341del
XM_011518404.1:c.4020_4022del	XP_011516706.1:p.Lys1341del
XM_011518405.1:c.4020_4022del	XP_011516707.1:p.Lys1341del
XM_011518406.1:c.4020_4022del	XP_011516708.1:p.Lys1341del
XM_011518407.1:c.4020_4022del	XP_011516709.1:p.Lys1341del
XM_011518408.1:c.4020_4022del	XP_011516710.1:p.Lys1341del
XR_929739.1:n.4204_4206del
NM_001351527.1:c.4020_4022del	NP_001338456.1:p.Lys1341del
NM_001351528.1:c.4020_4022del	NP_001338457.1:p.Lys1341del
NM_015046.6:c.4020_4022del	NP_055861.3:p.Lys1341del
XM_005272172.3:c.4020_4022del	XP_005272229.1:p.Lys1341del
XM_005272173.3:c.4020_4022del	XP_005272230.1:p.Lys1341del
XM_011518404.3:c.4020_4022del	XP_011516706.1:p.Lys1341del
XM_011518405.3:c.4020_4022del	XP_011516707.1:p.Lys1341del
XM_011518406.2:c.4020_4022del	XP_011516708.1:p.Lys1341del
XM_011518408.3:c.4020_4022del	XP_011516710.1:p.Lys1341del
XR_001746251.1:n.4204_4206del
XR_929739.2:n.4204_4206del
NM_015046.7:c.4020_4022del MANE Select	NP_055861.3:p.Lys1341del
NM_001351528.2:c.4020_4022del	NP_001338457.1:p.Lys1341del
NM_001351527.2:c.4020_4022del	NP_001338456.1:p.Lys1341del