Canonical Allele Identifier: CA2635070907

Gene: TUBB3

Linked Data

• gnomAD v4: 16-89935819-GGAGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89935823_89935826del , CM000678.2:g.89935823_89935826del	GRCh38
NC_000016.9:g.90002231_90002234del , CM000678.1:g.90002231_90002234del	GRCh37
NC_000016.8:g.88529732_88529735del	NCBI36
NG_027810.1:g.18815_18818del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315491.12:c.*19_*22del MANE Select	ENSP00000320295.7:n.*19_*22del
ENST00000680788.1:n.4793_4796del
ENST00000315491.11:c.*19_*22del	ENSP00000320295.7:n.*19_*22del
ENST00000554444.5:c.*19_*22del	ENSP00000451617.1:n.*19_*22del
ENST00000555576.5:c.277+2245_277+2248del	ENSP00000452554.1:n.277+2245_277+2248del
ENST00000555609.5:c.*1457_*1460del	ENSP00000451276.1:n.*1457_*1460del
ENST00000556922.1:c.*19_*22del	ENSP00000451560.1:n.*19_*22del
NM_001197181.1:c.*19_*22del	NP_001184110.1:n.*19_*22del
NM_006086.3:c.*19_*22del	NP_006077.2:n.*19_*22del
NM_006086.4:c.*19_*22del MANE Select	NP_006077.2:n.*19_*22del
NM_001197181.2:c.*19_*22del	NP_001184110.1:n.*19_*22del