Canonical Allele Identifier: CA919083057

Gene: TUBA1A

Linked Data

• dbSNP Id: rs1592259568

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185306_49185307insGC , CM000674.2:g.49185306_49185307insGC	GRCh38
NC_000012.11:g.49579089_49579090insGC , CM000674.1:g.49579089_49579090insGC	GRCh37
NC_000012.10:g.47865356_47865357insGC	NCBI36
NG_008966.1:g.8773_8774insCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.1060_1061insCG MANE Select	ENSP00000301071.7:p.Gly354AlafsTer26
ENST00000547939.6:c.955_956insCG	ENSP00000450268.2:p.Gly319AlafsTer26
ENST00000550767.6:c.955_956insCG	ENSP00000446637.1:p.Gly319AlafsTer26
ENST00000550811.2:n.2093_2094insCG
ENST00000552924.2:c.955_956insCG	ENSP00000448725.2:p.Gly319AlafsTer26
ENST00000679733.1:c.*516_*517insCG	ENSP00000505459.1:n.*516_*517insCG
ENST00000295766.9:c.1060_1061insCG	ENSP00000439020.2:p.Gly354AlafsTer26
ENST00000301071.11:c.1060_1061insCG	ENSP00000301071.7:p.Gly354AlafsTer26
ENST00000550767.5:c.955_956insCG	ENSP00000446637.1:p.Gly319AlafsTer26
NM_001270399.1:c.1060_1061insCG	NP_001257328.1:p.Gly354AlafsTer26
NM_001270400.1:c.955_956insCG	NP_001257329.1:p.Gly319AlafsTer26
NM_006009.3:c.1060_1061insCG	NP_006000.2:p.Gly354AlafsTer26
NM_006009.4:c.1060_1061insCG MANE Select	NP_006000.2:p.Gly354AlafsTer26
NM_001270399.2:c.1060_1061insCG	NP_001257328.1:p.Gly354AlafsTer26
NM_001270400.2:c.955_956insCG	NP_001257329.1:p.Gly319AlafsTer26