Canonical Allele Identifier: CA5870992

Gene: TUB

Linked Data

• dbSNP Id: rs748490960
• ExAC: 11:8111725 AAGCCCCCCTGGTGG / A
• gnomAD v2: 11-8111725-AAGCCCCCCTGGTGG-A
• gnomAD v3: 11-8090178-AAGCCCCCCTGGTGG-A
• gnomAD v4: 11-8090178-AAGCCCCCCTGGTGG-A
• MyVariant Identifiers: chr11:g.8111726_8111739del (hg19) ; chr11:g.8090179_8090192del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8090181_8090194del , CM000673.2:g.8090181_8090194del	GRCh38
NC_000011.9:g.8111728_8111741del , CM000673.1:g.8111728_8111741del	GRCh37
NC_000011.8:g.8068304_8068317del	NCBI36
NG_029912.1:g.56549_56562del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299506.3:c.203_216del MANE Select	ENSP00000299506.3:p.Ala68ValfsTer?
ENST00000299506.2:c.203_216del	ENSP00000299506.2:p.Ala68ValfsTer?
ENST00000305253.8:c.368_381del	ENSP00000305426.4:p.Ala123ValfsTer?
ENST00000534099.5:c.221_234del	ENSP00000434400.1:p.Ala74ValfsTer?
NM_003320.4:c.368_381del	NP_003311.2:p.Ala123ValfsTer?
NM_177972.2:c.203_216del	NP_813977.1:p.Ala68ValfsTer?
XM_005253109.2:c.329_342del	XP_005253166.1:p.Ala110ValfsTer?
XM_011520344.1:c.239_252del	XP_011518646.1:p.Ala80ValfsTer?
XM_005253109.3:c.329_342del	XP_005253166.1:p.Ala110ValfsTer?
XM_011520344.2:c.239_252del	XP_011518646.1:p.Ala80ValfsTer?
NM_177972.3:c.203_216del MANE Select	NP_813977.1:p.Ala68ValfsTer?
NM_003320.5:c.368_381del	NP_003311.2:p.Ala123ValfsTer?