Canonical Allele Identifier: CA2695199084

Gene: TUBA1A

Linked Data

• ClinVar Variation Id: 2637677
• ClinVar RCV Id: RCV003404975

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185728_49185731del , CM000674.2:g.49185728_49185731del	GRCh38
NC_000012.11:g.49579511_49579514del , CM000674.1:g.49579511_49579514del	GRCh37
NC_000012.10:g.47865778_47865781del	NCBI36
NG_008966.1:g.8350_8353del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.637_640del MANE Select	ENSP00000301071.7:p.Cys213ValfsTer14
ENST00000547939.6:c.532_535del	ENSP00000450268.2:p.Cys178ValfsTer14
ENST00000550767.6:c.532_535del	ENSP00000446637.1:p.Cys178ValfsTer14
ENST00000550811.2:n.1670_1673del
ENST00000552924.2:c.532_535del	ENSP00000448725.2:p.Cys178ValfsTer14
ENST00000679733.1:c.*93_*96del	ENSP00000505459.1:n.*93_*96del
ENST00000295766.9:c.637_640del	ENSP00000439020.2:p.Cys213ValfsTer14
ENST00000301071.11:c.637_640del	ENSP00000301071.7:p.Cys213ValfsTer14
ENST00000546918.1:c.*93_*96del	ENSP00000446613.1:n.*93_*96del
ENST00000547939.5:c.532_535del	ENSP00000450268.1:p.Cys178ValfsTer14
ENST00000550767.5:c.532_535del	ENSP00000446637.1:p.Cys178ValfsTer14
NM_001270399.1:c.637_640del	NP_001257328.1:p.Cys213ValfsTer14
NM_001270400.1:c.532_535del	NP_001257329.1:p.Cys178ValfsTer14
NM_006009.3:c.637_640del	NP_006000.2:p.Cys213ValfsTer14
NM_006009.4:c.637_640del MANE Select	NP_006000.2:p.Cys213ValfsTer14
NM_001270399.2:c.637_640del	NP_001257328.1:p.Cys213ValfsTer14
NM_001270400.2:c.532_535del	NP_001257329.1:p.Cys178ValfsTer14