Canonical Allele Identifier: CA286619370

Gene: TUBB3

Linked Data

• dbSNP Id: rs386794162

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89935711_89935712delinsGA , CM000678.2:g.89935711_89935712delinsGA	GRCh38
NC_000016.9:g.90002119_90002120delinsGA , CM000678.1:g.90002119_90002120delinsGA	GRCh37
NC_000016.8:g.88529620_88529621delinsGA	NCBI36
NG_027810.1:g.18703_18704delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315491.12:c.1260_1261delinsGA MANE Select	ENSP00000320295.7:p.Glu421Lys
ENST00000680788.1:n.4681_4682delinsGA
ENST00000315491.11:c.1260_1261delinsGA	ENSP00000320295.7:p.Glu421Lys
ENST00000554444.5:c.1044_1045delinsGA	ENSP00000451617.1:p.Glu349Lys
ENST00000555576.5:c.277+2133_277+2134delinsGA	ENSP00000452554.1:n.277+2133_277+2134delinsGA
ENST00000555609.5:c.*1345_*1346delinsGA	ENSP00000451276.1:n.*1345_*1346delinsGA
ENST00000556922.1:c.2301_2302delinsGA	ENSP00000451560.1:p.Glu768Lys
NM_001197181.1:c.1044_1045delinsGA	NP_001184110.1:p.Glu349Lys
NM_006086.3:c.1260_1261delinsGA	NP_006077.2:p.Glu421Lys
NM_006086.4:c.1260_1261delinsGA MANE Select	NP_006077.2:p.Glu421Lys
NM_001197181.2:c.1044_1045delinsGA	NP_001184110.1:p.Glu349Lys