Canonical Allele Identifier: CA2580086338

Gene: TUBA1A

Linked Data

• ClinVar Variation Id: 1705279
• ClinVar RCV Id: RCV002283593

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185471_49185491del , CM000674.2:g.49185471_49185491del	GRCh38
NC_000012.11:g.49579254_49579274del , CM000674.1:g.49579254_49579274del	GRCh37
NC_000012.10:g.47865521_47865541del	NCBI36
NG_008966.1:g.8592_8612del

Transcript Alleles

HGVS	Amino-acid change
ENST00000301071.12:c.879_899del MANE Select	ENSP00000301071.7:p.Ala294_Asn300del
ENST00000547939.6:c.774_794del	ENSP00000450268.2:p.Ala259_Asn265del
ENST00000550767.6:c.774_794del	ENSP00000446637.1:p.Ala259_Asn265del
ENST00000550811.2:n.1912_1932del
ENST00000552924.2:c.774_794del	ENSP00000448725.2:p.Ala259_Asn265del
ENST00000679733.1:c.*335_*355del	ENSP00000505459.1:n.*335_*355del
ENST00000295766.9:c.879_899del	ENSP00000439020.2:p.Ala294_Asn300del
ENST00000301071.11:c.879_899del	ENSP00000301071.7:p.Ala294_Asn300del
ENST00000550767.5:c.774_794del	ENSP00000446637.1:p.Ala259_Asn265del
NM_001270399.1:c.879_899del	NP_001257328.1:p.Ala294_Asn300del
NM_001270400.1:c.774_794del	NP_001257329.1:p.Ala259_Asn265del
NM_006009.3:c.879_899del	NP_006000.2:p.Ala294_Asn300del
NM_006009.4:c.879_899del MANE Select	NP_006000.2:p.Ala294_Asn300del
NM_001270399.2:c.879_899del	NP_001257328.1:p.Ala294_Asn300del
NM_001270400.2:c.774_794del	NP_001257329.1:p.Ala259_Asn265del