Canonical Allele Identifier: CA2618625233
Gene: TUBA1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49186003_49186006del , CM000674.2:g.49186003_49186006del GRCh38
NC_000012.11:g.49579786_49579789del , CM000674.1:g.49579786_49579789del GRCh37
NC_000012.10:g.47866053_47866056del NCBI36
NG_008966.1:g.8075_8078del

Transcript Alleles

HGVS Amino-acid Change
ENST00000301071.12:c.376-14_376-11del MANE Select ENSP00000301071.7:n.376-14_376-11del
ENST00000547939.6:c.271-14_271-11del ENSP00000450268.2:n.271-14_271-11del
ENST00000550767.6:c.271-14_271-11del ENSP00000446637.1:n.271-14_271-11del
ENST00000550811.2:n.1409-14_1409-11del
ENST00000552924.2:c.271-14_271-11del ENSP00000448725.2:n.271-14_271-11del
ENST00000679733.1:c.399-14_399-11del ENSP00000505459.1:n.399-14_399-11del
ENST00000295766.9:c.376-14_376-11del ENSP00000439020.2:n.376-14_376-11del
ENST00000301071.11:c.376-14_376-11del ENSP00000301071.7:n.376-14_376-11del
ENST00000546918.1:c.528-14_528-11del ENSP00000446613.1:n.528-14_528-11del
ENST00000547939.5:c.271-14_271-11del ENSP00000450268.1:n.271-14_271-11del
ENST00000550767.5:c.271-14_271-11del ENSP00000446637.1:n.271-14_271-11del
ENST00000552924.1:c.271-14_271-11del ENSP00000448725.1:n.271-14_271-11del
NM_001270399.1:c.376-14_376-11del NP_001257328.1:n.376-14_376-11del
NM_001270400.1:c.271-14_271-11del NP_001257329.1:n.271-14_271-11del
NM_006009.3:c.376-14_376-11del NP_006000.2:n.376-14_376-11del
NM_006009.4:c.376-14_376-11del MANE Select NP_006000.2:n.376-14_376-11del
NM_001270399.2:c.376-14_376-11del NP_001257328.1:n.376-14_376-11del
NM_001270400.2:c.271-14_271-11del NP_001257329.1:n.271-14_271-11del