Canonical Allele Identifier: CA2677889718

Gene: TUBB

Linked Data

• gnomAD v4: 6-30723877-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30723878del , CM000668.2:g.30723878del	GRCh38
NC_000006.11:g.30691655del , CM000668.1:g.30691655del	GRCh37
NC_000006.10:g.30799634del	NCBI36
NG_034142.1:g.8678del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327892.13:c.816del MANE Select	ENSP00000339001.7:p.Leu273SerfsTer27
ENST00000680530.1:n.1678del
ENST00000681421.1:n.1882del
ENST00000681435.1:c.600del	ENSP00000506665.1:p.Leu201SerfsTer27
ENST00000327892.12:c.816del	ENSP00000339001.7:p.Leu273SerfsTer27
ENST00000330914.7:c.600del	ENSP00000365578.2:p.Leu201SerfsTer27
ENST00000396384.1:c.600del	ENSP00000379668.1:p.Leu201SerfsTer27
ENST00000396389.5:c.762del	ENSP00000379672.1:p.Leu255SerfsTer27
NM_001293212.1:c.876del	NP_001280141.1:p.Leu293SerfsTer27
NM_001293213.1:c.370-160del	NP_001280142.1:n.370-160del
NM_001293214.1:c.684del	NP_001280143.1:p.Leu229SerfsTer27
NM_001293215.1:c.600del	NP_001280144.1:p.Leu201SerfsTer27
NM_001293216.1:c.600del	NP_001280145.1:p.Leu201SerfsTer27
NM_178014.3:c.816del	NP_821133.1:p.Leu273SerfsTer27
NR_120608.1:n.584-61del
NM_178014.4:c.816del MANE Select	NP_821133.1:p.Leu273SerfsTer27
NM_001293212.2:c.876del	NP_001280141.1:p.Leu293SerfsTer27
NM_001293213.2:c.370-160del	NP_001280142.1:n.370-160del
NM_001293214.2:c.684del	NP_001280143.1:p.Leu229SerfsTer27
NM_001293215.2:c.600del	NP_001280144.1:p.Leu201SerfsTer27
NM_001293216.2:c.600del	NP_001280145.1:p.Leu201SerfsTer27
NR_120608.2:n.433-61del