Canonical Allele Identifier: CA2035022715

Gene: TUBA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185543_49185545delinsCAG , CM000674.2:g.49185543_49185545delinsCAG	GRCh38
NC_000012.11:g.49579326_49579328delinsCAG , CM000674.1:g.49579326_49579328delinsCAG	GRCh37
NC_000012.10:g.47865593_47865595delinsCAG	NCBI36
NG_008966.1:g.8534_8536delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.821_823delinsCTG MANE Select	ENSP00000301071.7:p.Pro274=
ENST00000547939.6:c.716_718delinsCTG	ENSP00000450268.2:p.Pro239=
ENST00000550767.6:c.716_718delinsCTG	ENSP00000446637.1:p.Pro239=
ENST00000550811.2:n.1854_1856delinsCTG
ENST00000552924.2:c.716_718delinsCTG	ENSP00000448725.2:p.Pro239=
ENST00000679733.1:c.*277_*279delinsCTG	ENSP00000505459.1:n.*277_*279delinsCTG
ENST00000295766.9:c.821_823delinsCTG	ENSP00000439020.2:p.Pro274=
ENST00000301071.11:c.821_823delinsCTG	ENSP00000301071.7:p.Pro274=
ENST00000550767.5:c.716_718delinsCTG	ENSP00000446637.1:p.Pro239=
NM_001270399.1:c.821_823delinsCTG	NP_001257328.1:p.Pro274=
NM_001270400.1:c.716_718delinsCTG	NP_001257329.1:p.Pro239=
NM_006009.3:c.821_823delinsCTG	NP_006000.2:p.Pro274=
NM_006009.4:c.821_823delinsCTG MANE Select	NP_006000.2:p.Pro274=
NM_001270399.2:c.821_823delinsCTG	NP_001257328.1:p.Pro274=
NM_001270400.2:c.716_718delinsCTG	NP_001257329.1:p.Pro239=