Canonical Allele Identifier: CA2499221727

Gene: TUBA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185067_49185081del , CM000674.2:g.49185067_49185081del	GRCh38
NC_000012.11:g.49578850_49578864del , CM000674.1:g.49578850_49578864del	GRCh37
NC_000012.10:g.47865117_47865131del	NCBI36
NG_008966.1:g.9001_9015del

Transcript Alleles

HGVS	Amino-acid Change
NM_006009.4:c.1288_1302del MANE Select	NP_006000.2:p.Lys430_Glu434del
ENST00000301071.12:c.1288_1302del MANE Select	ENSP00000301071.7:p.Lys430_Glu434del
NM_001270399.1:c.1288_1302del	NP_001257328.1:p.Lys430_Glu434del
NM_001270399.2:c.1288_1302del	NP_001257328.1:p.Lys430_Glu434del
NM_001270400.1:c.1183_1197del	NP_001257329.1:p.Lys395_Glu399del
NM_001270400.2:c.1183_1197del	NP_001257329.1:p.Lys395_Glu399del
NM_006009.3:c.1288_1302del	NP_006000.2:p.Lys430_Glu434del
ENST00000295766.9:c.1288_1302del	ENSP00000439020.2:p.Lys430_Glu434del
ENST00000301071.11:c.1288_1302del	ENSP00000301071.7:p.Lys430_Glu434del
ENST00000547939.6:c.1183_1197del	ENSP00000450268.2:p.Lys395_Glu399del
ENST00000550767.5:c.1183_1197del	ENSP00000446637.1:p.Lys395_Glu399del
ENST00000550767.6:c.1183_1197del	ENSP00000446637.1:p.Lys395_Glu399del
ENST00000550811.2:n.2321_2335del
ENST00000552924.2:c.1183_1197del	ENSP00000448725.2:p.Lys395_Glu399del
ENST00000679733.1:c.*744_*758del	ENSP00000505459.1:n.*744_*758del