Canonical Allele Identifier: CA2580100084

Gene: TUBGCP6

Linked Data

• ClinVar Variation Id: 2102288
• ClinVar RCV Id: RCV003037647

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220516_50220517delinsCC , CM000684.2:g.50220516_50220517delinsCC	GRCh38
NC_000022.10:g.50658945_50658946delinsCC , CM000684.1:g.50658945_50658946delinsCC	GRCh37
NC_000022.9:g.49001072_49001073delinsCC	NCBI36
NG_032160.1:g.29455_29456delinsGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3842_3843delinsGG MANE Select	ENSP00000248846.5:p.Ala1281Gly
ENST00000248846.9:c.3842_3843delinsGG	ENSP00000248846.5:p.Ala1281Gly
ENST00000439308.6:c.3842_3843delinsGG	ENSP00000397387.2:p.Ala1281Gly
ENST00000491449.5:n.2149_2150delinsGG
ENST00000498611.5:n.3618-502_3618-501delinsGG
NM_020461.3:c.3842_3843delinsGG	NP_065194.2:p.Ala1281Gly
XR_938347.1:n.4407_4408delinsGG
XR_938348.1:n.3050-502_3050-501delinsGG
XR_001755343.2:n.4411_4412delinsGG
XR_001755344.2:n.4411_4412delinsGG
XR_002958720.1:n.3054-502_3054-501delinsGG
XR_938347.2:n.4411_4412delinsGG
NM_020461.4:c.3842_3843delinsGG MANE Select	NP_065194.3:p.Ala1281Gly