Canonical Allele Identifier: CA2740092910

Gene: SETX

Linked Data

• ClinVar Variation Id: 2947330
• ClinVar RCV Id: RCV003801520

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132330206_132330207delinsCA , CM000671.2:g.132330206_132330207delinsCA	GRCh38
NC_000009.11:g.135205593_135205594delinsCA , CM000671.1:g.135205593_135205594delinsCA	GRCh37
NC_000009.10:g.134195414_134195415delinsCA	NCBI36
NG_007946.1:g.29779_29780delinsTG , LRG_268:g.29779_29780delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224140.6:c.1391_1392delinsTG MANE Select	ENSP00000224140.5:p.Ser464Leu
ENST00000224140.5:c.1391_1392delinsTG	ENSP00000224140.5:p.Ser464Leu
NM_015046.5:c.1391_1392delinsTG , LRG_268t1:c.1391_1392delinsTG	NP_055861.3:p.Ser464Leu
XM_005272171.1:c.1391_1392delinsTG	XP_005272228.1:p.Ser464Leu
XM_005272172.1:c.1391_1392delinsTG	XP_005272229.1:p.Ser464Leu
XM_005272173.1:c.1391_1392delinsTG	XP_005272230.1:p.Ser464Leu
XM_011518404.1:c.1391_1392delinsTG	XP_011516706.1:p.Ser464Leu
XM_011518405.1:c.1391_1392delinsTG	XP_011516707.1:p.Ser464Leu
XM_011518406.1:c.1391_1392delinsTG	XP_011516708.1:p.Ser464Leu
XM_011518407.1:c.1391_1392delinsTG	XP_011516709.1:p.Ser464Leu
XM_011518408.1:c.1391_1392delinsTG	XP_011516710.1:p.Ser464Leu
XR_929739.1:n.1575_1576delinsTG
NM_001351527.1:c.1391_1392delinsTG	NP_001338456.1:p.Ser464Leu
NM_001351528.1:c.1391_1392delinsTG	NP_001338457.1:p.Ser464Leu
NM_015046.6:c.1391_1392delinsTG	NP_055861.3:p.Ser464Leu
XM_005272172.3:c.1391_1392delinsTG	XP_005272229.1:p.Ser464Leu
XM_005272173.3:c.1391_1392delinsTG	XP_005272230.1:p.Ser464Leu
XM_011518404.3:c.1391_1392delinsTG	XP_011516706.1:p.Ser464Leu
XM_011518405.3:c.1391_1392delinsTG	XP_011516707.1:p.Ser464Leu
XM_011518406.2:c.1391_1392delinsTG	XP_011516708.1:p.Ser464Leu
XM_011518408.3:c.1391_1392delinsTG	XP_011516710.1:p.Ser464Leu
XR_001746251.1:n.1575_1576delinsTG
XR_929739.2:n.1575_1576delinsTG
NM_015046.7:c.1391_1392delinsTG MANE Select	NP_055861.3:p.Ser464Leu
NM_001351528.2:c.1391_1392delinsTG	NP_001338457.1:p.Ser464Leu
NM_001351527.2:c.1391_1392delinsTG	NP_001338456.1:p.Ser464Leu