Canonical Allele Identifier: CA236623462

Gene: TUBA1A

Linked Data

• ClinVar Variation Id: 1252613
• ClinVar RCV Id: RCV001660910
• dbSNP Id: rs34741313
• gnomAD v2: 12-49580752-AC-A
• gnomAD v3: 12-49186969-AC-A
• gnomAD v4: 12-49186969-AC-A
• MyVariant Identifiers: chr12:g.49580753del (hg19) ; chr12:g.49186970del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49186970del , CM000674.2:g.49186970del	GRCh38
NC_000012.11:g.49580753del , CM000674.1:g.49580753del	GRCh37
NC_000012.10:g.47867020del	NCBI36
NG_008966.1:g.7109del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.4-137del MANE Select	ENSP00000301071.7:n.4-137del
ENST00000547939.6:c.-103+20del	ENSP00000450268.2:n.-103+20del
ENST00000550767.6:c.-103+20del	ENSP00000446637.1:n.-103+20del
ENST00000550811.2:n.900del
ENST00000552924.2:c.-102-137del	ENSP00000448725.2:n.-102-137del
ENST00000679733.1:c.4-137del	ENSP00000505459.1:n.4-137del
ENST00000295766.9:c.4-137del	ENSP00000439020.2:n.4-137del
ENST00000301071.11:c.4-137del	ENSP00000301071.7:n.4-137del
ENST00000546918.1:c.4-137del	ENSP00000446613.1:n.4-137del
ENST00000547939.5:c.-103+20del	ENSP00000450268.1:n.-103+20del
ENST00000548363.1:n.8-137del
ENST00000550254.1:n.26-137del
ENST00000550811.1:c.-103+20del	ENSP00000449016.1:n.-103+20del
ENST00000552924.1:c.-102-137del	ENSP00000448725.1:n.-102-137del
NM_001270399.1:c.4-137del	NP_001257328.1:n.4-137del
NM_001270400.1:c.-102-137del	NP_001257329.1:n.-102-137del
NM_006009.3:c.4-137del	NP_006000.2:n.4-137del
NM_006009.4:c.4-137del MANE Select	NP_006000.2:n.4-137del
NM_001270399.2:c.4-137del	NP_001257328.1:n.4-137del
NM_001270400.2:c.-102-137del	NP_001257329.1:n.-102-137del