Canonical Allele Identifier: CA2657501911

Gene: TUBGCP6

Linked Data

• dbSNP Id: rs2147177532
• gnomAD v4: 22-50220597-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220598dup , CM000684.2:g.50220598dup	GRCh38
NC_000022.10:g.50659027dup , CM000684.1:g.50659027dup	GRCh37
NC_000022.9:g.49001154dup	NCBI36
NG_032160.1:g.29374dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3761dup MANE Select	ENSP00000248846.5:p.Pro1255AlafsTer?
ENST00000248846.9:c.3761dup	ENSP00000248846.5:p.Pro1255AlafsTer?
ENST00000439308.6:c.3761dup	ENSP00000397387.2:p.Pro1255AlafsTer?
ENST00000491449.5:n.2068dup
ENST00000498611.5:n.3618-583dup
NM_020461.3:c.3761dup	NP_065194.2:p.Pro1255AlafsTer?
XR_938347.1:n.4326dup
XR_938348.1:n.3050-583dup
XR_001755343.2:n.4330dup
XR_001755344.2:n.4330dup
XR_002958720.1:n.3054-583dup
XR_938347.2:n.4330dup
NM_020461.4:c.3761dup MANE Select	NP_065194.3:p.Pro1255AlafsTer?