Canonical Allele Identifier: CA919083065

Gene: TUBA1A

Linked Data

• dbSNP Id: rs1592259792

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185469_49185470insAA , CM000674.2:g.49185469_49185470insAA	GRCh38
NC_000012.11:g.49579252_49579253insAA , CM000674.1:g.49579252_49579253insAA	GRCh37
NC_000012.10:g.47865519_47865520insAA	NCBI36
NG_008966.1:g.8609_8610insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.896_897insTT MANE Select	ENSP00000301071.7:p.Asn300SerfsTer5
ENST00000547939.6:c.791_792insTT	ENSP00000450268.2:p.Asn265SerfsTer5
ENST00000550767.6:c.791_792insTT	ENSP00000446637.1:p.Asn265SerfsTer5
ENST00000550811.2:n.1929_1930insTT
ENST00000552924.2:c.791_792insTT	ENSP00000448725.2:p.Asn265SerfsTer5
ENST00000679733.1:c.*352_*353insTT	ENSP00000505459.1:n.*352_*353insTT
ENST00000295766.9:c.896_897insTT	ENSP00000439020.2:p.Asn300SerfsTer5
ENST00000301071.11:c.896_897insTT	ENSP00000301071.7:p.Asn300SerfsTer5
ENST00000550767.5:c.791_792insTT	ENSP00000446637.1:p.Asn265SerfsTer5
NM_001270399.1:c.896_897insTT	NP_001257328.1:p.Asn300SerfsTer5
NM_001270400.1:c.791_792insTT	NP_001257329.1:p.Asn265SerfsTer5
NM_006009.3:c.896_897insTT	NP_006000.2:p.Asn300SerfsTer5
NM_006009.4:c.896_897insTT MANE Select	NP_006000.2:p.Asn300SerfsTer5
NM_001270399.2:c.896_897insTT	NP_001257328.1:p.Asn300SerfsTer5
NM_001270400.2:c.791_792insTT	NP_001257329.1:p.Asn265SerfsTer5