Canonical Allele Identifier: CA2035022230

Gene: TUBA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185307_49185309delinsAAC , CM000674.2:g.49185307_49185309delinsAAC	GRCh38
NC_000012.11:g.49579090_49579092delinsAAC , CM000674.1:g.49579090_49579092delinsAAC	GRCh37
NC_000012.10:g.47865357_47865359delinsAAC	NCBI36
NG_008966.1:g.8770_8772delinsGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.1057_1059delinsGTT MANE Select	ENSP00000301071.7:p.Val353=
ENST00000547939.6:c.952_954delinsGTT	ENSP00000450268.2:p.Val318=
ENST00000550767.6:c.952_954delinsGTT	ENSP00000446637.1:p.Val318=
ENST00000550811.2:n.2090_2092delinsGTT
ENST00000552924.2:c.952_954delinsGTT	ENSP00000448725.2:p.Val318=
ENST00000679733.1:c.*513_*515delinsGTT	ENSP00000505459.1:n.*513_*515delinsGTT
ENST00000295766.9:c.1057_1059delinsGTT	ENSP00000439020.2:p.Val353=
ENST00000301071.11:c.1057_1059delinsGTT	ENSP00000301071.7:p.Val353=
ENST00000550767.5:c.952_954delinsGTT	ENSP00000446637.1:p.Val318=
NM_001270399.1:c.1057_1059delinsGTT	NP_001257328.1:p.Val353=
NM_001270400.1:c.952_954delinsGTT	NP_001257329.1:p.Val318=
NM_006009.3:c.1057_1059delinsGTT	NP_006000.2:p.Val353=
NM_006009.4:c.1057_1059delinsGTT MANE Select	NP_006000.2:p.Val353=
NM_001270399.2:c.1057_1059delinsGTT	NP_001257328.1:p.Val353=
NM_001270400.2:c.952_954delinsGTT	NP_001257329.1:p.Val318=