Canonical Allele Identifier: CA919083062
Gene: TUBA1A HGNC NCBI

Linked Data

dbSNP Id: rs1592259786

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49185463_49185464insA , CM000674.2:g.49185463_49185464insA GRCh38
NC_000012.11:g.49579246_49579247insA , CM000674.1:g.49579246_49579247insA GRCh37
NC_000012.10:g.47865513_47865514insA NCBI36
NG_008966.1:g.8615_8616insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000301071.12:c.902_903insT MANE Select ENSP00000301071.7:p.Gln301HisfsTer6
ENST00000547939.6:c.797_798insT ENSP00000450268.2:p.Gln266HisfsTer6
ENST00000550767.6:c.797_798insT ENSP00000446637.1:p.Gln266HisfsTer6
ENST00000550811.2:n.1935_1936insT
ENST00000552924.2:c.797_798insT ENSP00000448725.2:p.Gln266HisfsTer6
ENST00000679733.1:c.*358_*359insT ENSP00000505459.1:n.*358_*359insT
ENST00000295766.9:c.902_903insT ENSP00000439020.2:p.Gln301HisfsTer6
ENST00000301071.11:c.902_903insT ENSP00000301071.7:p.Gln301HisfsTer6
ENST00000550767.5:c.797_798insT ENSP00000446637.1:p.Gln266HisfsTer6
NM_001270399.1:c.902_903insT NP_001257328.1:p.Gln301HisfsTer6
NM_001270400.1:c.797_798insT NP_001257329.1:p.Gln266HisfsTer6
NM_006009.3:c.902_903insT NP_006000.2:p.Gln301HisfsTer6
NM_006009.4:c.902_903insT MANE Select NP_006000.2:p.Gln301HisfsTer6
NM_001270399.2:c.902_903insT NP_001257328.1:p.Gln301HisfsTer6
NM_001270400.2:c.797_798insT NP_001257329.1:p.Gln266HisfsTer6