Canonical Allele Identifier: CA1026637055

Gene: TUBGCP6

Linked Data

• gnomAD v3: 22-50221118-CGTGGGTGTTCCACCGTGGCTGGGTGGGAGCCACATCT-C
• gnomAD v4: 22-50221118-CGTGGGTGTTCCACCGTGGCTGGGTGGGAGCCACATCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50221120_50221156del , CM000684.2:g.50221120_50221156del	GRCh38
NC_000022.10:g.50659549_50659585del , CM000684.1:g.50659549_50659585del	GRCh37
NC_000022.9:g.49001676_49001712del	NCBI36
NG_032160.1:g.28817_28853del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3204_3240del MANE Select	ENSP00000248846.5:p.Val1070ThrfsTer9
ENST00000248846.9:c.3204_3240del	ENSP00000248846.5:p.Val1070ThrfsTer9
ENST00000439308.6:c.3204_3240del	ENSP00000397387.2:p.Val1070ThrfsTer9
ENST00000491449.5:n.1511_1547del
ENST00000498611.5:n.3617+120_3617+156del
NM_020461.3:c.3204_3240del	NP_065194.2:p.Val1070ThrfsTer9
XR_938347.1:n.3769_3805del
XR_938348.1:n.3049+873_3049+909del
XR_001755343.2:n.3773_3809del
XR_001755344.2:n.3773_3809del
XR_002958720.1:n.3053+873_3053+909del
XR_938347.2:n.3773_3809del
NM_020461.4:c.3204_3240del MANE Select	NP_065194.3:p.Val1070ThrfsTer9