Canonical Allele Identifier: CA8256262

Gene: TUBB3

Linked Data

• dbSNP Id: rs777262923
• ExAC: 16:90002242 TGGC / T
• gnomAD v2: 16-90002242-TGGC-T
• gnomAD v3: 16-89935834-TGGC-T
• gnomAD v4: 16-89935834-TGGC-T
• MyVariant Identifiers: chr16:g.90002243_90002245del (hg19) ; chr16:g.89935835_89935837del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89935838_89935840del , CM000678.2:g.89935838_89935840del	GRCh38
NC_000016.9:g.90002246_90002248del , CM000678.1:g.90002246_90002248del	GRCh37
NC_000016.8:g.88529747_88529749del	NCBI36
NG_027810.1:g.18830_18832del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315491.12:c.*34_*36del MANE Select	ENSP00000320295.7:n.*34_*36del
ENST00000680788.1:n.4808_4810del
ENST00000315491.11:c.*34_*36del	ENSP00000320295.7:n.*34_*36del
ENST00000554444.5:c.*34_*36del	ENSP00000451617.1:n.*34_*36del
ENST00000555576.5:c.277+2260_277+2262del	ENSP00000452554.1:n.277+2260_277+2262del
ENST00000555609.5:c.*1472_*1474del	ENSP00000451276.1:n.*1472_*1474del
ENST00000556922.1:c.*34_*36del	ENSP00000451560.1:n.*34_*36del
NM_001197181.1:c.*34_*36del	NP_001184110.1:n.*34_*36del
NM_006086.3:c.*34_*36del	NP_006077.2:n.*34_*36del
NM_006086.4:c.*34_*36del MANE Select	NP_006077.2:n.*34_*36del
NM_001197181.2:c.*34_*36del	NP_001184110.1:n.*34_*36del