Canonical Allele Identifier: CA2726182001

Gene: TUBA1A

Linked Data

• dbSNP Id: rs2121243138

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185481_49185483del , CM000674.2:g.49185481_49185483del	GRCh38
NC_000012.11:g.49579264_49579266del , CM000674.1:g.49579264_49579266del	GRCh37
NC_000012.10:g.47865531_47865533del	NCBI36
NG_008966.1:g.8597_8599del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.884_886del MANE Select	ENSP00000301071.7:p.Cys295del
ENST00000547939.6:c.779_781del	ENSP00000450268.2:p.Cys260del
ENST00000550767.6:c.779_781del	ENSP00000446637.1:p.Cys260del
ENST00000550811.2:n.1917_1919del
ENST00000552924.2:c.779_781del	ENSP00000448725.2:p.Cys260del
ENST00000679733.1:c.*340_*342del	ENSP00000505459.1:n.*340_*342del
ENST00000295766.9:c.884_886del	ENSP00000439020.2:p.Cys295del
ENST00000301071.11:c.884_886del	ENSP00000301071.7:p.Cys295del
ENST00000550767.5:c.779_781del	ENSP00000446637.1:p.Cys260del
NM_001270399.1:c.884_886del	NP_001257328.1:p.Cys295del
NM_001270400.1:c.779_781del	NP_001257329.1:p.Cys260del
NM_006009.3:c.884_886del	NP_006000.2:p.Cys295del
NM_006009.4:c.884_886del MANE Select	NP_006000.2:p.Cys295del
NM_001270399.2:c.884_886del	NP_001257328.1:p.Cys295del
NM_001270400.2:c.779_781del	NP_001257329.1:p.Cys260del