Canonical Allele Identifier: CA2579601302

Gene: SETX

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132297042_132297047del , CM000671.2:g.132297042_132297047del	GRCh38
NC_000009.11:g.135172429_135172434del , CM000671.1:g.135172429_135172434del	GRCh37
NC_000009.10:g.134162250_134162255del	NCBI36
NG_007946.1:g.62939_62944del , LRG_268:g.62939_62944del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224140.6:c.5789_5794del MANE Select	ENSP00000224140.5:p.Tyr1930Ter
ENST00000224140.5:c.5789_5794del	ENSP00000224140.5:p.Tyr1930Ter
ENST00000436441.5:c.515_520del	ENSP00000409143.1:p.Tyr172Ter
NM_015046.5:c.5789_5794del , LRG_268t1:c.5789_5794del	NP_055861.3:p.Tyr1930Ter
XM_005272171.1:c.5789_5794del	XP_005272228.1:p.Tyr1930Ter
XM_005272172.1:c.5789_5794del	XP_005272229.1:p.Tyr1930Ter
XM_005272173.1:c.5789_5794del	XP_005272230.1:p.Tyr1930Ter
XM_011518404.1:c.5789_5794del	XP_011516706.1:p.Tyr1930Ter
XM_011518405.1:c.5789_5794del	XP_011516707.1:p.Tyr1930Ter
XM_011518406.1:c.5789_5794del	XP_011516708.1:p.Tyr1930Ter
XM_011518407.1:c.5789_5794del	XP_011516709.1:p.Tyr1930Ter
XM_011518408.1:c.5789_5794del	XP_011516710.1:p.Tyr1930Ter
XR_929739.1:n.5705_5710del
NM_001351527.1:c.5789_5794del	NP_001338456.1:p.Tyr1930Ter
NM_001351528.1:c.5789_5794del	NP_001338457.1:p.Tyr1930Ter
NM_015046.6:c.5789_5794del	NP_055861.3:p.Tyr1930Ter
XM_005272172.3:c.5789_5794del	XP_005272229.1:p.Tyr1930Ter
XM_005272173.3:c.5789_5794del	XP_005272230.1:p.Tyr1930Ter
XM_011518404.3:c.5789_5794del	XP_011516706.1:p.Tyr1930Ter
XM_011518405.3:c.5789_5794del	XP_011516707.1:p.Tyr1930Ter
XM_011518406.2:c.5789_5794del	XP_011516708.1:p.Tyr1930Ter
XM_011518408.3:c.5789_5794del	XP_011516710.1:p.Tyr1930Ter
XM_017014496.1:c.242_247del	XP_016869985.1:p.Tyr81Ter
XR_001746251.1:n.5344_5349del
XR_929739.2:n.5705_5710del
NM_015046.7:c.5789_5794del MANE Select	NP_055861.3:p.Tyr1930Ter
NM_001351528.2:c.5789_5794del	NP_001338457.1:p.Tyr1930Ter
NM_001351527.2:c.5789_5794del	NP_001338456.1:p.Tyr1930Ter