Canonical Allele Identifier: CA2819303269

Gene: TUBGCP6

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50221181dup , CM000684.2:g.50221181dup	GRCh38
NC_000022.10:g.50659610dup , CM000684.1:g.50659610dup	GRCh37
NC_000022.9:g.49001737dup	NCBI36
NG_032160.1:g.28791dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3178dup MANE Select	ENSP00000248846.5:p.Ser1060LysfsTer?
ENST00000248846.9:c.3178dup	ENSP00000248846.5:p.Ser1060LysfsTer?
ENST00000439308.6:c.3178dup	ENSP00000397387.2:p.Ser1060LysfsTer?
ENST00000491449.5:n.1485dup
ENST00000498611.5:n.3617+94dup
NM_020461.3:c.3178dup	NP_065194.2:p.Ser1060LysfsTer?
XR_938347.1:n.3743dup
XR_938348.1:n.3049+847dup
XR_001755343.2:n.3747dup
XR_001755344.2:n.3747dup
XR_002958720.1:n.3053+847dup
XR_938347.2:n.3747dup
NM_020461.4:c.3178dup MANE Select	NP_065194.3:p.Ser1060LysfsTer?