Canonical Allele Identifier: CA1026636355

Gene: TUBGCP6

Linked Data

• gnomAD v3: 22-50220593-CAG-C
• gnomAD v4: 22-50220593-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220594_50220595del , CM000684.2:g.50220594_50220595del	GRCh38
NC_000022.10:g.50659023_50659024del , CM000684.1:g.50659023_50659024del	GRCh37
NC_000022.9:g.49001150_49001151del	NCBI36
NG_032160.1:g.29377_29378del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3764_3765del MANE Select	ENSP00000248846.5:p.Pro1255ArgfsTer?
ENST00000248846.9:c.3764_3765del	ENSP00000248846.5:p.Pro1255ArgfsTer?
ENST00000439308.6:c.3764_3765del	ENSP00000397387.2:p.Pro1255ArgfsTer?
ENST00000491449.5:n.2071_2072del
ENST00000498611.5:n.3618-580_3618-579del
NM_020461.3:c.3764_3765del	NP_065194.2:p.Pro1255ArgfsTer?
XR_938347.1:n.4329_4330del
XR_938348.1:n.3050-580_3050-579del
XR_001755343.2:n.4333_4334del
XR_001755344.2:n.4333_4334del
XR_002958720.1:n.3054-580_3054-579del
XR_938347.2:n.4333_4334del
NM_020461.4:c.3764_3765del MANE Select	NP_065194.3:p.Pro1255ArgfsTer?