Canonical Allele Identifier: CA2795904101

Gene: TUBA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185097_49185098insACCCAACCCCCAAACACACCCAAC , CM000674.2:g.49185097_49185098insACCCAACCCCCAAACACACCCAAC	GRCh38
NC_000012.11:g.49578880_49578881insACCCAACCCCCAAACACACCCAAC , CM000674.1:g.49578880_49578881insACCCAACCCCCAAACACACCCAAC	GRCh37
NC_000012.10:g.47865147_47865148insACCCAACCCCCAAACACACCCAAC	NCBI36
NG_008966.1:g.8982_8983insTTGGGTGTGTTTGGGGGTTGGGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.1269_1270insTTGGGTGTGTTTGGGGGTTGGGTG MANE Select	ENSP00000301071.7:p.Glu423_Asp424insLeuGlyValPheGlyGlyTrpVal
ENST00000547939.6:c.1164_1165insTTGGGTGTGTTTGGGGGTTGGGTG	ENSP00000450268.2:p.Glu388_Asp389insLeuGlyValPheGlyGlyTrpVal
ENST00000550767.6:c.1164_1165insTTGGGTGTGTTTGGGGGTTGGGTG	ENSP00000446637.1:p.Glu388_Asp389insLeuGlyValPheGlyGlyTrpVal
ENST00000550811.2:n.2302_2303insTTGGGTGTGTTTGGGGGTTGGGTG
ENST00000552924.2:c.1164_1165insTTGGGTGTGTTTGGGGGTTGGGTG	ENSP00000448725.2:p.Glu388_Asp389insLeuGlyValPheGlyGlyTrpVal
ENST00000679733.1:c.*725_*726insTTGGGTGTGTTTGGGGGTTGGGTG	ENSP00000505459.1:n.*725_*726insTTGGGTGTGTTTGGGGGTTGGGTG
ENST00000295766.9:c.1269_1270insTTGGGTGTGTTTGGGGGTTGGGTG	ENSP00000439020.2:p.Glu423_Asp424insLeuGlyValPheGlyGlyTrpVal
ENST00000301071.11:c.1269_1270insTTGGGTGTGTTTGGGGGTTGGGTG	ENSP00000301071.7:p.Glu423_Asp424insLeuGlyValPheGlyGlyTrpVal
ENST00000550767.5:c.1164_1165insTTGGGTGTGTTTGGGGGTTGGGTG	ENSP00000446637.1:p.Glu388_Asp389insLeuGlyValPheGlyGlyTrpVal
NM_001270399.1:c.1269_1270insTTGGGTGTGTTTGGGGGTTGGGTG	NP_001257328.1:p.Glu423_Asp424insLeuGlyValPheGlyGlyTrpVal
NM_001270400.1:c.1164_1165insTTGGGTGTGTTTGGGGGTTGGGTG	NP_001257329.1:p.Glu388_Asp389insLeuGlyValPheGlyGlyTrpVal
NM_006009.3:c.1269_1270insTTGGGTGTGTTTGGGGGTTGGGTG	NP_006000.2:p.Glu423_Asp424insLeuGlyValPheGlyGlyTrpVal
NM_006009.4:c.1269_1270insTTGGGTGTGTTTGGGGGTTGGGTG MANE Select	NP_006000.2:p.Glu423_Asp424insLeuGlyValPheGlyGlyTrpVal
NM_001270399.2:c.1269_1270insTTGGGTGTGTTTGGGGGTTGGGTG	NP_001257328.1:p.Glu423_Asp424insLeuGlyValPheGlyGlyTrpVal
NM_001270400.2:c.1164_1165insTTGGGTGTGTTTGGGGGTTGGGTG	NP_001257329.1:p.Glu388_Asp389insLeuGlyValPheGlyGlyTrpVal