Canonical Allele Identifier: CA2657501937

Gene: TUBGCP6

Linked Data

• gnomAD v4: 22-50220620-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220622dup , CM000684.2:g.50220622dup	GRCh38
NC_000022.10:g.50659051dup , CM000684.1:g.50659051dup	GRCh37
NC_000022.9:g.49001178dup	NCBI36
NG_032160.1:g.29351dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3738dup MANE Select	ENSP00000248846.5:p.Asp1247ArgfsTer?
ENST00000248846.9:c.3738dup	ENSP00000248846.5:p.Asp1247ArgfsTer?
ENST00000439308.6:c.3738dup	ENSP00000397387.2:p.Asp1247ArgfsTer?
ENST00000491449.5:n.2045dup
ENST00000498611.5:n.3618-606dup
NM_020461.3:c.3738dup	NP_065194.2:p.Asp1247ArgfsTer?
XR_938347.1:n.4303dup
XR_938348.1:n.3050-606dup
XR_001755343.2:n.4307dup
XR_001755344.2:n.4307dup
XR_002958720.1:n.3054-606dup
XR_938347.2:n.4307dup
NM_020461.4:c.3738dup MANE Select	NP_065194.3:p.Asp1247ArgfsTer?