Canonical Allele Identifier: CA2035021695

Gene: TUBA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185024_49185025delinsCT , CM000674.2:g.49185024_49185025delinsCT	GRCh38
NC_000012.11:g.49578807_49578808delinsCT , CM000674.1:g.49578807_49578808delinsCT	GRCh37
NC_000012.10:g.47865074_47865075delinsCT	NCBI36
NG_008966.1:g.9054_9055delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.1341_1342delinsAG MANE Select	ENSP00000301071.7:p.Glu447=
ENST00000547939.6:c.1236_1237delinsAG	ENSP00000450268.2:p.Glu412=
ENST00000550767.6:c.1236_1237delinsAG	ENSP00000446637.1:p.Glu412=
ENST00000550811.2:n.2374_2375delinsAG
ENST00000552924.2:c.1236_1237delinsAG	ENSP00000448725.2:p.Glu412=
ENST00000679733.1:c.*797_*798delinsAG	ENSP00000505459.1:n.*797_*798delinsAG
ENST00000295766.9:c.1341_1342delinsAG	ENSP00000439020.2:p.Glu447=
ENST00000301071.11:c.1341_1342delinsAG	ENSP00000301071.7:p.Glu447=
ENST00000550767.5:c.1236_1237delinsAG	ENSP00000446637.1:p.Glu412=
NM_001270399.1:c.1341_1342delinsAG	NP_001257328.1:p.Glu447=
NM_001270400.1:c.1236_1237delinsAG	NP_001257329.1:p.Glu412=
NM_006009.3:c.1341_1342delinsAG	NP_006000.2:p.Glu447=
NM_006009.4:c.1341_1342delinsAG MANE Select	NP_006000.2:p.Glu447=
NM_001270399.2:c.1341_1342delinsAG	NP_001257328.1:p.Glu447=
NM_001270400.2:c.1236_1237delinsAG	NP_001257329.1:p.Glu412=