Canonical Allele Identifier: CA2695206100

Gene: TUBB

Linked Data

• ClinVar Variation Id: 3184754
• ClinVar RCV Id: RCV004481623

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30723808_30723809delinsTA , CM000668.2:g.30723808_30723809delinsTA	GRCh38
NC_000006.11:g.30691585_30691586delinsTA , CM000668.1:g.30691585_30691586delinsTA	GRCh37
NC_000006.10:g.30799564_30799565delinsTA	NCBI36
NG_034142.1:g.8608_8609delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327892.13:c.746_747delinsTA MANE Select	ENSP00000339001.7:p.Asp249Val
ENST00000680530.1:n.1608_1609delinsTA
ENST00000681421.1:n.1812_1813delinsTA
ENST00000681435.1:c.530_531delinsTA	ENSP00000506665.1:p.Asp177Val
ENST00000327892.12:c.746_747delinsTA	ENSP00000339001.7:p.Asp249Val
ENST00000330914.7:c.530_531delinsTA	ENSP00000365578.2:p.Asp177Val
ENST00000396384.1:c.530_531delinsTA	ENSP00000379668.1:p.Asp177Val
ENST00000396389.5:c.692_693delinsTA	ENSP00000379672.1:p.Asp231Val
NM_001293212.1:c.806_807delinsTA	NP_001280141.1:p.Asp269Val
NM_001293213.1:c.370-230_370-229delinsTA	NP_001280142.1:n.370-230_370-229delinsTA
NM_001293214.1:c.614_615delinsTA	NP_001280143.1:p.Asp205Val
NM_001293215.1:c.530_531delinsTA	NP_001280144.1:p.Asp177Val
NM_001293216.1:c.530_531delinsTA	NP_001280145.1:p.Asp177Val
NM_178014.3:c.746_747delinsTA	NP_821133.1:p.Asp249Val
NR_120608.1:n.584-131_584-130delinsTA
NM_178014.4:c.746_747delinsTA MANE Select	NP_821133.1:p.Asp249Val
NM_001293212.2:c.806_807delinsTA	NP_001280141.1:p.Asp269Val
NM_001293213.2:c.370-230_370-229delinsTA	NP_001280142.1:n.370-230_370-229delinsTA
NM_001293214.2:c.614_615delinsTA	NP_001280143.1:p.Asp205Val
NM_001293215.2:c.530_531delinsTA	NP_001280144.1:p.Asp177Val
NM_001293216.2:c.530_531delinsTA	NP_001280145.1:p.Asp177Val
NR_120608.2:n.433-131_433-130delinsTA