Canonical Allele Identifier: CA2741725002

Gene: TUBGCP6

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50221193_50221194insCCTGCCCGTGG , CM000684.2:g.50221193_50221194insCCTGCCCGTGG	GRCh38
NC_000022.10:g.50659622_50659623insCCTGCCCGTGG , CM000684.1:g.50659622_50659623insCCTGCCCGTGG	GRCh37
NC_000022.9:g.49001749_49001750insCCTGCCCGTGG	NCBI36
NG_032160.1:g.28778_28779insCCACGGGCAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3165_3166insCCACGGGCAGG MANE Select	ENSP00000248846.5:p.Val1056ProfsTer?
ENST00000248846.9:c.3165_3166insCCACGGGCAGG	ENSP00000248846.5:p.Val1056ProfsTer?
ENST00000439308.6:c.3165_3166insCCACGGGCAGG	ENSP00000397387.2:p.Val1056ProfsTer?
ENST00000491449.5:n.1472_1473insCCACGGGCAGG
ENST00000498611.5:n.3617+81_3617+82insCCACGGGCAGG
NM_020461.3:c.3165_3166insCCACGGGCAGG	NP_065194.2:p.Val1056ProfsTer?
XR_938347.1:n.3730_3731insCCACGGGCAGG
XR_938348.1:n.3049+834_3049+835insCCACGGGCAGG
XR_001755343.2:n.3734_3735insCCACGGGCAGG
XR_001755344.2:n.3734_3735insCCACGGGCAGG
XR_002958720.1:n.3053+834_3053+835insCCACGGGCAGG
XR_938347.2:n.3734_3735insCCACGGGCAGG
NM_020461.4:c.3165_3166insCCACGGGCAGG MANE Select	NP_065194.3:p.Val1056ProfsTer?