Canonical Allele Identifier: CA2577760490

Gene: TUBGCP6

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50221282_50221283del , CM000684.2:g.50221282_50221283del	GRCh38
NC_000022.10:g.50659711_50659712del , CM000684.1:g.50659711_50659712del	GRCh37
NC_000022.9:g.49001838_49001839del	NCBI36
NG_032160.1:g.28690_28691del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3077_3078del MANE Select	ENSP00000248846.5:p.Phe1026TrpfsTer16
ENST00000248846.9:c.3077_3078del	ENSP00000248846.5:p.Phe1026TrpfsTer16
ENST00000439308.6:c.3077_3078del	ENSP00000397387.2:p.Phe1026TrpfsTer16
ENST00000491449.5:n.1384_1385del
ENST00000498611.5:n.3610_3611del
NM_020461.3:c.3077_3078del	NP_065194.2:p.Phe1026TrpfsTer16
XR_938347.1:n.3642_3643del
XR_938348.1:n.3049+746_3049+747del
XR_001755343.2:n.3646_3647del
XR_001755344.2:n.3646_3647del
XR_002958720.1:n.3053+746_3053+747del
XR_938347.2:n.3646_3647del
NM_020461.4:c.3077_3078del MANE Select	NP_065194.3:p.Phe1026TrpfsTer16