Canonical Allele Identifier: CA5296983

Gene: SETX

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132300819_132300821del , CM000671.2:g.132300819_132300821del	GRCh38
NC_000009.11:g.135176206_135176208del , CM000671.1:g.135176206_135176208del	GRCh37
NC_000009.10:g.134166027_134166029del	NCBI36
NG_007946.1:g.59171_59173del , LRG_268:g.59171_59173del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224140.6:c.5375-12_5375-10del MANE Select	ENSP00000224140.5:n.5375-12_5375-10del
ENST00000224140.5:c.5375-12_5375-10del	ENSP00000224140.5:n.5375-12_5375-10del
ENST00000436441.5:c.101-12_101-10del	ENSP00000409143.1:n.101-12_101-10del
NM_015046.5:c.5375-12_5375-10del , LRG_268t1:c.5375-12_5375-10del	NP_055861.3:n.5375-12_5375-10del
XM_005272171.1:c.5375-12_5375-10del	XP_005272228.1:n.5375-12_5375-10del
XM_005272172.1:c.5375-12_5375-10del	XP_005272229.1:n.5375-12_5375-10del
XM_005272173.1:c.5375-12_5375-10del	XP_005272230.1:n.5375-12_5375-10del
XM_011518404.1:c.5375-12_5375-10del	XP_011516706.1:n.5375-12_5375-10del
XM_011518405.1:c.5375-12_5375-10del	XP_011516707.1:n.5375-12_5375-10del
XM_011518406.1:c.5375-12_5375-10del	XP_011516708.1:n.5375-12_5375-10del
XM_011518407.1:c.5375-12_5375-10del	XP_011516709.1:n.5375-12_5375-10del
XM_011518408.1:c.5375-12_5375-10del	XP_011516710.1:n.5375-12_5375-10del
XR_929739.1:n.5291-12_5291-10del
NM_001351527.1:c.5375-12_5375-10del	NP_001338456.1:n.5375-12_5375-10del
NM_001351528.1:c.5375-12_5375-10del	NP_001338457.1:n.5375-12_5375-10del
NM_015046.6:c.5375-12_5375-10del	NP_055861.3:n.5375-12_5375-10del
XM_005272172.3:c.5375-12_5375-10del	XP_005272229.1:n.5375-12_5375-10del
XM_005272173.3:c.5375-12_5375-10del	XP_005272230.1:n.5375-12_5375-10del
XM_011518404.3:c.5375-12_5375-10del	XP_011516706.1:n.5375-12_5375-10del
XM_011518405.3:c.5375-12_5375-10del	XP_011516707.1:n.5375-12_5375-10del
XM_011518406.2:c.5375-12_5375-10del	XP_011516708.1:n.5375-12_5375-10del
XM_011518408.3:c.5375-12_5375-10del	XP_011516710.1:n.5375-12_5375-10del
XM_017014496.1:c.-173-12_-173-10del	XP_016869985.1:n.-173-12_-173-10del
XR_001746251.1:n.4930-12_4930-10del
XR_929739.2:n.5291-12_5291-10del
NM_015046.7:c.5375-12_5375-10del MANE Select	NP_055861.3:n.5375-12_5375-10del
NM_001351528.2:c.5375-12_5375-10del	NP_001338457.1:n.5375-12_5375-10del
NM_001351527.2:c.5375-12_5375-10del	NP_001338456.1:n.5375-12_5375-10del