Canonical Allele Identifier: CA2657502575

Gene: TUBGCP6

Linked Data

• gnomAD v4: 22-50220819-GGGAGCCATGTCTGAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220820_50220834del , CM000684.2:g.50220820_50220834del	GRCh38
NC_000022.10:g.50659249_50659263del , CM000684.1:g.50659249_50659263del	GRCh37
NC_000022.9:g.49001376_49001390del	NCBI36
NG_032160.1:g.29138_29152del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3525_3539del MANE Select	ENSP00000248846.5:p.Ser1176_Pro1180del
ENST00000248846.9:c.3525_3539del	ENSP00000248846.5:p.Ser1176_Pro1180del
ENST00000439308.6:c.3525_3539del	ENSP00000397387.2:p.Ser1176_Pro1180del
ENST00000491449.5:n.1832_1846del
ENST00000498611.5:n.3617+441_3617+455del
NM_020461.3:c.3525_3539del	NP_065194.2:p.Ser1176_Pro1180del
XR_938347.1:n.4090_4104del
XR_938348.1:n.3050-819_3050-805del
XR_001755343.2:n.4094_4108del
XR_001755344.2:n.4094_4108del
XR_002958720.1:n.3054-819_3054-805del
XR_938347.2:n.4094_4108del
NM_020461.4:c.3525_3539del MANE Select	NP_065194.3:p.Ser1176_Pro1180del