Canonical Allele Identifier: CA2657501902

Gene: TUBGCP6

Linked Data

• gnomAD v4: 22-50220553-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220556del , CM000684.2:g.50220556del	GRCh38
NC_000022.10:g.50658985del , CM000684.1:g.50658985del	GRCh37
NC_000022.9:g.49001112del	NCBI36
NG_032160.1:g.29418del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3805del MANE Select	ENSP00000248846.5:p.His1269MetfsTer?
ENST00000248846.9:c.3805del	ENSP00000248846.5:p.His1269MetfsTer?
ENST00000439308.6:c.3805del	ENSP00000397387.2:p.His1269MetfsTer?
ENST00000491449.5:n.2112del
ENST00000498611.5:n.3618-539del
NM_020461.3:c.3805del	NP_065194.2:p.His1269MetfsTer?
XR_938347.1:n.4370del
XR_938348.1:n.3050-539del
XR_001755343.2:n.4374del
XR_001755344.2:n.4374del
XR_002958720.1:n.3054-539del
XR_938347.2:n.4374del
NM_020461.4:c.3805del MANE Select	NP_065194.3:p.His1269MetfsTer?