Canonical Allele Identifier: CA918568544
Gene: SETX HGNC NCBI

Linked Data

dbSNP Id: rs200130851

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132297180_132297183dup , CM000671.2:g.132297180_132297183dup GRCh38
NC_000009.11:g.135172567_135172570dup , CM000671.1:g.135172567_135172570dup GRCh37
NC_000009.10:g.134162388_134162391dup NCBI36
NG_007946.1:g.62805_62808dup , LRG_268:g.62805_62808dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000224140.6:c.5782-127_5782-124dup MANE Select ENSP00000224140.5:n.5782-127_5782-124dup
ENST00000224140.5:c.5782-127_5782-124dup ENSP00000224140.5:n.5782-127_5782-124dup
ENST00000436441.5:c.508-127_508-124dup ENSP00000409143.1:n.508-127_508-124dup
NM_015046.5:c.5782-127_5782-124dup , LRG_268t1:c.5782-127_5782-124dup NP_055861.3:n.5782-127_5782-124dup
XM_005272171.1:c.5782-127_5782-124dup XP_005272228.1:n.5782-127_5782-124dup
XM_005272172.1:c.5782-127_5782-124dup XP_005272229.1:n.5782-127_5782-124dup
XM_005272173.1:c.5782-127_5782-124dup XP_005272230.1:n.5782-127_5782-124dup
XM_011518404.1:c.5782-127_5782-124dup XP_011516706.1:n.5782-127_5782-124dup
XM_011518405.1:c.5782-127_5782-124dup XP_011516707.1:n.5782-127_5782-124dup
XM_011518406.1:c.5782-127_5782-124dup XP_011516708.1:n.5782-127_5782-124dup
XM_011518407.1:c.5782-127_5782-124dup XP_011516709.1:n.5782-127_5782-124dup
XM_011518408.1:c.5782-127_5782-124dup XP_011516710.1:n.5782-127_5782-124dup
XR_929739.1:n.5698-127_5698-124dup
NM_001351527.1:c.5782-127_5782-124dup NP_001338456.1:n.5782-127_5782-124dup
NM_001351528.1:c.5782-127_5782-124dup NP_001338457.1:n.5782-127_5782-124dup
NM_015046.6:c.5782-127_5782-124dup NP_055861.3:n.5782-127_5782-124dup
XM_005272172.3:c.5782-127_5782-124dup XP_005272229.1:n.5782-127_5782-124dup
XM_005272173.3:c.5782-127_5782-124dup XP_005272230.1:n.5782-127_5782-124dup
XM_011518404.3:c.5782-127_5782-124dup XP_011516706.1:n.5782-127_5782-124dup
XM_011518405.3:c.5782-127_5782-124dup XP_011516707.1:n.5782-127_5782-124dup
XM_011518406.2:c.5782-127_5782-124dup XP_011516708.1:n.5782-127_5782-124dup
XM_011518408.3:c.5782-127_5782-124dup XP_011516710.1:n.5782-127_5782-124dup
XM_017014496.1:c.235-127_235-124dup XP_016869985.1:n.235-127_235-124dup
XR_001746251.1:n.5337-127_5337-124dup
XR_929739.2:n.5698-127_5698-124dup
NM_015046.7:c.5782-127_5782-124dup MANE Select NP_055861.3:n.5782-127_5782-124dup
NM_001351528.2:c.5782-127_5782-124dup NP_001338457.1:n.5782-127_5782-124dup
NM_001351527.2:c.5782-127_5782-124dup NP_001338456.1:n.5782-127_5782-124dup