Canonical Allele Identifier: CA919083066
Gene: TUBA1A HGNC NCBI

Linked Data

dbSNP Id: rs1592259801

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49185482_49185484del , CM000674.2:g.49185482_49185484del GRCh38
NC_000012.11:g.49579265_49579267del , CM000674.1:g.49579265_49579267del GRCh37
NC_000012.10:g.47865532_47865534del NCBI36
NG_008966.1:g.8595_8597del

Transcript Alleles

HGVS Amino-acid change
ENST00000301071.12:c.882_884del MANE Select ENSP00000301071.7:p.Cys295del
ENST00000547939.6:c.777_779del ENSP00000450268.2:p.Cys260del
ENST00000550767.6:c.777_779del ENSP00000446637.1:p.Cys260del
ENST00000550811.2:n.1915_1917del
ENST00000552924.2:c.777_779del ENSP00000448725.2:p.Cys260del
ENST00000679733.1:c.*338_*340del ENSP00000505459.1:n.*338_*340del
ENST00000295766.9:c.882_884del ENSP00000439020.2:p.Cys295del
ENST00000301071.11:c.882_884del ENSP00000301071.7:p.Cys295del
ENST00000550767.5:c.777_779del ENSP00000446637.1:p.Cys260del
NM_001270399.1:c.882_884del NP_001257328.1:p.Cys295del
NM_001270400.1:c.777_779del NP_001257329.1:p.Cys260del
NM_006009.3:c.882_884del NP_006000.2:p.Cys295del
NM_006009.4:c.882_884del MANE Select NP_006000.2:p.Cys295del
NM_001270399.2:c.882_884del NP_001257328.1:p.Cys295del
NM_001270400.2:c.777_779del NP_001257329.1:p.Cys260del