Canonical Allele Identifier: CA2518216613

Gene: TUBGCP6

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220688del , CM000684.2:g.50220688del	GRCh38
NC_000022.10:g.50659117del , CM000684.1:g.50659117del	GRCh37
NC_000022.9:g.49001244del	NCBI36
NG_032160.1:g.29286del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3673del MANE Select	ENSP00000248846.5:p.Val1225LeufsTer?
ENST00000248846.9:c.3673del	ENSP00000248846.5:p.Val1225LeufsTer?
ENST00000439308.6:c.3673del	ENSP00000397387.2:p.Val1225LeufsTer?
ENST00000491449.5:n.1980del
ENST00000498611.5:n.3617+589del
NM_020461.3:c.3673del	NP_065194.2:p.Val1225LeufsTer?
XR_938347.1:n.4238del
XR_938348.1:n.3050-671del
XR_001755343.2:n.4242del
XR_001755344.2:n.4242del
XR_002958720.1:n.3054-671del
XR_938347.2:n.4242del
NM_020461.4:c.3673del MANE Select	NP_065194.3:p.Val1225LeufsTer?