Canonical Allele Identifier: CA1139662686

Gene: TUBA1A

Linked Data

• ClinVar Variation Id: 977831
• ClinVar RCV Id: RCV001255741

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49186631_49186641delinsGCGACACACGT , CM000674.2:g.49186631_49186641delinsGCGACACACGT	GRCh38
NC_000012.11:g.49580414_49580424delinsGCGACACACGT , CM000674.1:g.49580414_49580424delinsGCGACACACGT	GRCh37
NC_000012.10:g.47866681_47866691delinsGCGACACACGT	NCBI36
NG_008966.1:g.7438_7448delinsACGTGTGTCGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.196_206delinsACGTGTGTCGC MANE Select	ENSP00000301071.7:p.Val66_Asp69delinsThrCysValAla
ENST00000547939.6:c.91_101delinsACGTGTGTCGC	ENSP00000450268.2:p.Val31_Asp34delinsThrCysValAla
ENST00000550767.6:c.91_101delinsACGTGTGTCGC	ENSP00000446637.1:p.Val31_Asp34delinsThrCysValAla
ENST00000550811.2:n.1229_1239delinsACGTGTGTCGC
ENST00000552924.2:c.91_101delinsACGTGTGTCGC	ENSP00000448725.2:p.Val31_Asp34delinsThrCysValAla
ENST00000679733.1:c.196_206delinsACGTGTGTCGC	ENSP00000505459.1:p.Val66_Asp69delinsThrCysValAla
ENST00000295766.9:c.196_206delinsACGTGTGTCGC	ENSP00000439020.2:p.Val66_Asp69delinsThrCysValAla
ENST00000301071.11:c.196_206delinsACGTGTGTCGC	ENSP00000301071.7:p.Val66_Asp69delinsThrCysValAla
ENST00000546918.1:c.196_206delinsACGTGTGTCGC	ENSP00000446613.1:p.Val66_Asp69delinsThrCysValAla
ENST00000547939.5:c.91_101delinsACGTGTGTCGC	ENSP00000450268.1:p.Val31_Asp34delinsThrCysValAla
ENST00000548363.1:n.200_210delinsACGTGTGTCGC
ENST00000550254.1:n.218_228delinsACGTGTGTCGC
ENST00000550767.5:c.91_101delinsACGTGTGTCGC	ENSP00000446637.1:p.Val31_Asp34delinsThrCysValAla
ENST00000552924.1:c.91_101delinsACGTGTGTCGC	ENSP00000448725.1:p.Val31_Asp34delinsThrCysValAla
NM_001270399.1:c.196_206delinsACGTGTGTCGC	NP_001257328.1:p.Val66_Asp69delinsThrCysValAla
NM_001270400.1:c.91_101delinsACGTGTGTCGC	NP_001257329.1:p.Val31_Asp34delinsThrCysValAla
NM_006009.3:c.196_206delinsACGTGTGTCGC	NP_006000.2:p.Val66_Asp69delinsThrCysValAla
NM_006009.4:c.196_206delinsACGTGTGTCGC MANE Select	NP_006000.2:p.Val66_Asp69delinsThrCysValAla
NM_001270399.2:c.196_206delinsACGTGTGTCGC	NP_001257328.1:p.Val66_Asp69delinsThrCysValAla
NM_001270400.2:c.91_101delinsACGTGTGTCGC	NP_001257329.1:p.Val31_Asp34delinsThrCysValAla