Canonical Allele Identifier: CA2657502075

Gene: TUBGCP6

Linked Data

• gnomAD v4: 22-50220687-CCTGATGCTGGTGTCAGACACATGTCCGTGGGTGTTCCACCGTGGCCGGGTGGGAGCCATGTCTGACACAGACTCCCCCAAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220698_50220778del , CM000684.2:g.50220698_50220778del	GRCh38
NC_000022.10:g.50659127_50659207del , CM000684.1:g.50659127_50659207del	GRCh37
NC_000022.9:g.49001254_49001334del	NCBI36
NG_032160.1:g.29204_29284del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3591_3671del MANE Select	ENSP00000248846.5:p.Ser1197_Ile1223del
ENST00000248846.9:c.3591_3671del	ENSP00000248846.5:p.Ser1197_Ile1223del
ENST00000439308.6:c.3591_3671del	ENSP00000397387.2:p.Ser1197_Ile1223del
ENST00000491449.5:n.1898_1978del
ENST00000498611.5:n.3617+507_3617+587del
NM_020461.3:c.3591_3671del	NP_065194.2:p.Ser1197_Ile1223del
XR_938347.1:n.4156_4236del
XR_938348.1:n.3050-753_3050-673del
XR_001755343.2:n.4160_4240del
XR_001755344.2:n.4160_4240del
XR_002958720.1:n.3054-753_3054-673del
XR_938347.2:n.4160_4240del
NM_020461.4:c.3591_3671del MANE Select	NP_065194.3:p.Ser1197_Ile1223del