Canonical Allele Identifier: CA2657502778

Gene: TUBGCP6

Linked Data

• gnomAD v4: 22-50220907-ACGTCCGACACGTTCTCCCCAACCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220908_50220931del , CM000684.2:g.50220908_50220931del	GRCh38
NC_000022.10:g.50659337_50659360del , CM000684.1:g.50659337_50659360del	GRCh37
NC_000022.9:g.49001464_49001487del	NCBI36
NG_032160.1:g.29041_29064del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3428_3451del MANE Select	ENSP00000248846.5:p.Arg1143_Val1151delinsMet
ENST00000248846.9:c.3428_3451del	ENSP00000248846.5:p.Arg1143_Val1151delinsMet
ENST00000439308.6:c.3428_3451del	ENSP00000397387.2:p.Arg1143_Val1151delinsMet
ENST00000491449.5:n.1735_1758del
ENST00000498611.5:n.3617+344_3617+367del
NM_020461.3:c.3428_3451del	NP_065194.2:p.Arg1143_Val1151delinsMet
XR_938347.1:n.3993_4016del
XR_938348.1:n.3050-916_3050-893del
XR_001755343.2:n.3997_4020del
XR_001755344.2:n.3997_4020del
XR_002958720.1:n.3054-916_3054-893del
XR_938347.2:n.3997_4020del
NM_020461.4:c.3428_3451del MANE Select	NP_065194.3:p.Arg1143_Val1151delinsMet