Canonical Allele Identifier: CA2580079882

Gene: SETX

Linked Data

• ClinVar Variation Id: 1735734
• ClinVar RCV Id: RCV002355640

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132327723_132327724delinsAA , CM000671.2:g.132327723_132327724delinsAA	GRCh38
NC_000009.11:g.135203110_135203111delinsAA , CM000671.1:g.135203110_135203111delinsAA	GRCh37
NC_000009.10:g.134192931_134192932delinsAA	NCBI36
NG_007946.1:g.32262_32263delinsTT , LRG_268:g.32262_32263delinsTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000224140.6:c.3874_3875delinsTT MANE Select	ENSP00000224140.5:p.Gly1292Phe
ENST00000224140.5:c.3874_3875delinsTT	ENSP00000224140.5:p.Gly1292Phe
NM_015046.5:c.3874_3875delinsTT , LRG_268t1:c.3874_3875delinsTT	NP_055861.3:p.Gly1292Phe
XM_005272171.1:c.3874_3875delinsTT	XP_005272228.1:p.Gly1292Phe
XM_005272172.1:c.3874_3875delinsTT	XP_005272229.1:p.Gly1292Phe
XM_005272173.1:c.3874_3875delinsTT	XP_005272230.1:p.Gly1292Phe
XM_011518404.1:c.3874_3875delinsTT	XP_011516706.1:p.Gly1292Phe
XM_011518405.1:c.3874_3875delinsTT	XP_011516707.1:p.Gly1292Phe
XM_011518406.1:c.3874_3875delinsTT	XP_011516708.1:p.Gly1292Phe
XM_011518407.1:c.3874_3875delinsTT	XP_011516709.1:p.Gly1292Phe
XM_011518408.1:c.3874_3875delinsTT	XP_011516710.1:p.Gly1292Phe
XR_929739.1:n.4058_4059delinsTT
NM_001351527.1:c.3874_3875delinsTT	NP_001338456.1:p.Gly1292Phe
NM_001351528.1:c.3874_3875delinsTT	NP_001338457.1:p.Gly1292Phe
NM_015046.6:c.3874_3875delinsTT	NP_055861.3:p.Gly1292Phe
XM_005272172.3:c.3874_3875delinsTT	XP_005272229.1:p.Gly1292Phe
XM_005272173.3:c.3874_3875delinsTT	XP_005272230.1:p.Gly1292Phe
XM_011518404.3:c.3874_3875delinsTT	XP_011516706.1:p.Gly1292Phe
XM_011518405.3:c.3874_3875delinsTT	XP_011516707.1:p.Gly1292Phe
XM_011518406.2:c.3874_3875delinsTT	XP_011516708.1:p.Gly1292Phe
XM_011518408.3:c.3874_3875delinsTT	XP_011516710.1:p.Gly1292Phe
XR_001746251.1:n.4058_4059delinsTT
XR_929739.2:n.4058_4059delinsTT
NM_015046.7:c.3874_3875delinsTT MANE Select	NP_055861.3:p.Gly1292Phe
NM_001351528.2:c.3874_3875delinsTT	NP_001338457.1:p.Gly1292Phe
NM_001351527.2:c.3874_3875delinsTT	NP_001338456.1:p.Gly1292Phe