Canonical Allele Identifier: CA2657503453

Gene: TUBGCP6

Linked Data

• gnomAD v4: 22-50221165-TCCCCGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50221169_50221174del , CM000684.2:g.50221169_50221174del	GRCh38
NC_000022.10:g.50659598_50659603del , CM000684.1:g.50659598_50659603del	GRCh37
NC_000022.9:g.49001725_49001730del	NCBI36
NG_032160.1:g.28801_28806del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3188_3193del MANE Select	ENSP00000248846.5:p.Val1063_Gly1064del
ENST00000248846.9:c.3188_3193del	ENSP00000248846.5:p.Val1063_Gly1064del
ENST00000439308.6:c.3188_3193del	ENSP00000397387.2:p.Val1063_Gly1064del
ENST00000491449.5:n.1495_1500del
ENST00000498611.5:n.3617+104_3617+109del
NM_020461.3:c.3188_3193del	NP_065194.2:p.Val1063_Gly1064del
XR_938347.1:n.3753_3758del
XR_938348.1:n.3049+857_3049+862del
XR_001755343.2:n.3757_3762del
XR_001755344.2:n.3757_3762del
XR_002958720.1:n.3053+857_3053+862del
XR_938347.2:n.3757_3762del
NM_020461.4:c.3188_3193del MANE Select	NP_065194.3:p.Val1063_Gly1064del