Canonical Allele Identifier: CA236622461

Gene: TUBA1A

Linked Data

• MyVariant Identifiers: chr12:g.49579327_49579328insAG (hg19) ; chr12:g.49185544_49185545insAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185544_49185545insAG , CM000674.2:g.49185544_49185545insAG	GRCh38
NC_000012.11:g.49579327_49579328insAG , CM000674.1:g.49579327_49579328insAG	GRCh37
NC_000012.10:g.47865594_47865595insAG	NCBI36
NG_008966.1:g.8534_8535insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.821_822insCT MANE Select	ENSP00000301071.7:p.Val275LeufsTer15
ENST00000547939.6:c.716_717insCT	ENSP00000450268.2:p.Val240LeufsTer15
ENST00000550767.6:c.716_717insCT	ENSP00000446637.1:p.Val240LeufsTer15
ENST00000550811.2:n.1854_1855insCT
ENST00000552924.2:c.716_717insCT	ENSP00000448725.2:p.Val240LeufsTer15
ENST00000679733.1:c.*277_*278insCT	ENSP00000505459.1:n.*277_*278insCT
ENST00000295766.9:c.821_822insCT	ENSP00000439020.2:p.Val275LeufsTer15
ENST00000301071.11:c.821_822insCT	ENSP00000301071.7:p.Val275LeufsTer15
ENST00000550767.5:c.716_717insCT	ENSP00000446637.1:p.Val240LeufsTer15
NM_001270399.1:c.821_822insCT	NP_001257328.1:p.Val275LeufsTer15
NM_001270400.1:c.716_717insCT	NP_001257329.1:p.Val240LeufsTer15
NM_006009.3:c.821_822insCT	NP_006000.2:p.Val275LeufsTer15
NM_006009.4:c.821_822insCT MANE Select	NP_006000.2:p.Val275LeufsTer15
NM_001270399.2:c.821_822insCT	NP_001257328.1:p.Val275LeufsTer15
NM_001270400.2:c.716_717insCT	NP_001257329.1:p.Val240LeufsTer15