Canonical Allele Identifier: CA2726182127
Gene: TUBA1A HGNC NCBI

Linked Data

dbSNP Id: rs2121243176

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49185487_49185488insCTG , CM000674.2:g.49185487_49185488insCTG GRCh38
NC_000012.11:g.49579270_49579271insCTG , CM000674.1:g.49579270_49579271insCTG GRCh37
NC_000012.10:g.47865537_47865538insCTG NCBI36
NG_008966.1:g.8591_8592insCAG

Transcript Alleles

HGVS Amino-acid change
ENST00000301071.12:c.878_879insCAG MANE Select ENSP00000301071.7:p.Asn293_Ala294insSer
ENST00000547939.6:c.773_774insCAG ENSP00000450268.2:p.Asn258_Ala259insSer
ENST00000550767.6:c.773_774insCAG ENSP00000446637.1:p.Asn258_Ala259insSer
ENST00000550811.2:n.1911_1912insCAG
ENST00000552924.2:c.773_774insCAG ENSP00000448725.2:p.Asn258_Ala259insSer
ENST00000679733.1:c.*334_*335insCAG ENSP00000505459.1:n.*334_*335insCAG
ENST00000295766.9:c.878_879insCAG ENSP00000439020.2:p.Asn293_Ala294insSer
ENST00000301071.11:c.878_879insCAG ENSP00000301071.7:p.Asn293_Ala294insSer
ENST00000550767.5:c.773_774insCAG ENSP00000446637.1:p.Asn258_Ala259insSer
NM_001270399.1:c.878_879insCAG NP_001257328.1:p.Asn293_Ala294insSer
NM_001270400.1:c.773_774insCAG NP_001257329.1:p.Asn258_Ala259insSer
NM_006009.3:c.878_879insCAG NP_006000.2:p.Asn293_Ala294insSer
NM_006009.4:c.878_879insCAG MANE Select NP_006000.2:p.Asn293_Ala294insSer
NM_001270399.2:c.878_879insCAG NP_001257328.1:p.Asn293_Ala294insSer
NM_001270400.2:c.773_774insCAG NP_001257329.1:p.Asn258_Ala259insSer