Canonical Allele Identifier: CA2575146018

Gene: TUBA1A

Linked Data

• gnomAD v4: 12-49185023-CCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185028_49185030del , CM000674.2:g.49185028_49185030del	GRCh38
NC_000012.11:g.49578811_49578813del , CM000674.1:g.49578811_49578813del	GRCh37
NC_000012.10:g.47865078_47865080del	NCBI36
NG_008966.1:g.9053_9055del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.1340_1342del MANE Select	ENSP00000301071.7:p.Glu447del
ENST00000547939.6:c.1235_1237del	ENSP00000450268.2:p.Glu412del
ENST00000550767.6:c.1235_1237del	ENSP00000446637.1:p.Glu412del
ENST00000550811.2:n.2373_2375del
ENST00000552924.2:c.1235_1237del	ENSP00000448725.2:p.Glu412del
ENST00000679733.1:c.*796_*798del	ENSP00000505459.1:n.*796_*798del
ENST00000295766.9:c.1340_1342del	ENSP00000439020.2:p.Glu447del
ENST00000301071.11:c.1340_1342del	ENSP00000301071.7:p.Glu447del
ENST00000550767.5:c.1235_1237del	ENSP00000446637.1:p.Glu412del
NM_001270399.1:c.1340_1342del	NP_001257328.1:p.Glu447del
NM_001270400.1:c.1235_1237del	NP_001257329.1:p.Glu412del
NM_006009.3:c.1340_1342del	NP_006000.2:p.Glu447del
NM_006009.4:c.1340_1342del MANE Select	NP_006000.2:p.Glu447del
NM_001270399.2:c.1340_1342del	NP_001257328.1:p.Glu447del
NM_001270400.2:c.1235_1237del	NP_001257329.1:p.Glu412del