Canonical Allele Identifier: CA645372915

Gene: TUBA1A

Linked Data

• ClinVar Variation Id: 437119
• ClinVar RCV Id: RCV000502086 ; RCV001249347 ; RCV002524321
• dbSNP Id: rs1555162244
• MyVariant Identifiers: chr12:g.49578846_49578848del (hg19) ; chr12:g.49185063_49185065del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185067_49185069del , CM000674.2:g.49185067_49185069del	GRCh38
NC_000012.11:g.49578850_49578852del , CM000674.1:g.49578850_49578852del	GRCh37
NC_000012.10:g.47865117_47865119del	NCBI36
NG_008966.1:g.9014_9016del

Transcript Alleles

HGVS	Amino-acid change
ENST00000301071.12:c.1301_1303del MANE Select	ENSP00000301071.7:p.Glu434del
ENST00000547939.6:c.1196_1198del	ENSP00000450268.2:p.Glu399del
ENST00000550767.6:c.1196_1198del	ENSP00000446637.1:p.Glu399del
ENST00000550811.2:n.2334_2336del
ENST00000552924.2:c.1196_1198del	ENSP00000448725.2:p.Glu399del
ENST00000679733.1:c.*757_*759del	ENSP00000505459.1:n.*757_*759del
ENST00000295766.9:c.1301_1303del	ENSP00000439020.2:p.Glu434del
ENST00000301071.11:c.1301_1303del	ENSP00000301071.7:p.Glu434del
ENST00000550767.5:c.1196_1198del	ENSP00000446637.1:p.Glu399del
NM_001270399.1:c.1301_1303del	NP_001257328.1:p.Glu434del
NM_001270400.1:c.1196_1198del	NP_001257329.1:p.Glu399del
NM_006009.3:c.1301_1303del	NP_006000.2:p.Glu434del
NM_006009.4:c.1301_1303del MANE Select	NP_006000.2:p.Glu434del
NM_001270399.2:c.1301_1303del	NP_001257328.1:p.Glu434del
NM_001270400.2:c.1196_1198del	NP_001257329.1:p.Glu399del