Canonical Allele Identifier: CA10307864

Gene: TUBGCP6

Linked Data

• dbSNP Id: rs764380977
• ExAC: 22:50659126 GTGTCAGACACATGTC / G
• gnomAD v3: 22-50220697-GTGTCAGACACATGTC-G
• gnomAD v4: 22-50220697-GTGTCAGACACATGTC-G
• MyVariant Identifiers: chr22:g.50659127_50659141del (hg19) ; chr22:g.50220698_50220712del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220698_50220712del , CM000684.2:g.50220698_50220712del	GRCh38
NC_000022.10:g.50659127_50659141del , CM000684.1:g.50659127_50659141del	GRCh37
NC_000022.9:g.49001254_49001268del	NCBI36
NG_032160.1:g.29260_29274del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3647_3661del MANE Select	ENSP00000248846.5:p.Gly1216_Thr1221delinsAla
ENST00000248846.9:c.3647_3661del	ENSP00000248846.5:p.Gly1216_Thr1221delinsAla
ENST00000439308.6:c.3647_3661del	ENSP00000397387.2:p.Gly1216_Thr1221delinsAla
ENST00000491449.5:n.1954_1968del
ENST00000498611.5:n.3617+563_3617+577del
NM_020461.3:c.3647_3661del	NP_065194.2:p.Gly1216_Thr1221delinsAla
XR_938347.1:n.4212_4226del
XR_938348.1:n.3050-697_3050-683del
XR_001755343.2:n.4216_4230del
XR_001755344.2:n.4216_4230del
XR_002958720.1:n.3054-697_3054-683del
XR_938347.2:n.4216_4230del
NM_020461.4:c.3647_3661del MANE Select	NP_065194.3:p.Gly1216_Thr1221delinsAla