Canonical Allele Identifier: CA10308055

Gene: TUBGCP6

Linked Data

• dbSNP Id: rs754885011
• ExAC: 22:50659697 C / CA
• gnomAD v2: 22-50659697-C-CA
• gnomAD v4: 22-50221268-C-CA
• MyVariant Identifiers: chr22:g.50659697_50659698insA (hg19) ; chr22:g.50221268_50221269insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50221268_50221269insA , CM000684.2:g.50221268_50221269insA	GRCh38
NC_000022.10:g.50659697_50659698insA , CM000684.1:g.50659697_50659698insA	GRCh37
NC_000022.9:g.49001824_49001825insA	NCBI36
NG_032160.1:g.28703_28704insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3090_3091insT MANE Select	ENSP00000248846.5:p.Gly1031TrpfsTer12
ENST00000248846.9:c.3090_3091insT	ENSP00000248846.5:p.Gly1031TrpfsTer12
ENST00000439308.6:c.3090_3091insT	ENSP00000397387.2:p.Gly1031TrpfsTer12
ENST00000491449.5:n.1397_1398insT
ENST00000498611.5:n.3617+6_3617+7insT
NM_020461.3:c.3090_3091insT	NP_065194.2:p.Gly1031TrpfsTer12
XR_938347.1:n.3655_3656insT
XR_938348.1:n.3049+759_3049+760insT
XR_001755343.2:n.3659_3660insT
XR_001755344.2:n.3659_3660insT
XR_002958720.1:n.3053+759_3053+760insT
XR_938347.2:n.3659_3660insT
NM_020461.4:c.3090_3091insT MANE Select	NP_065194.3:p.Gly1031TrpfsTer12