Canonical Allele Identifier: CA10307874

Gene: TUBGCP6

Linked Data

• ClinVar Variation Id: 1936058
• ClinVar RCV Id: RCV002636218
• dbSNP Id: rs2064504612
• ExAC: 22:50659143 GTGGGTGTTCCACCGTGGCCGGGTGGGAGCCATGTCTGACACAGACTCCCCCAAGCTGATGCTGGCATCAGACACGTGTCCA / G
• gnomAD v2: 22-50659143-GTGGGTGTTCCACCGTGGCCGGGTGGGAGCCATGTCTGACACAGACTCCCCCAAGCTGATGCTGGCATCAGACACGTGTCCA-G
• gnomAD v3: 22-50220714-GTGGGTGTTCCACCGTGGCCGGGTGGGAGCCATGTCTGACACAGACTCCCCCAAGCTGATGCTGGCATCAGACACGTGTCCA-G
• gnomAD v4: 22-50220714-GTGGGTGTTCCACCGTGGCCGGGTGGGAGCCATGTCTGACACAGACTCCCCCAAGCTGATGCTGGCATCAGACACGTGTCCA-G
• MyVariant Identifiers: chr22:g.50659144_50659224del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220737_50220817del , CM000684.2:g.50220737_50220817del	GRCh38
NC_000022.10:g.50659166_50659246del , CM000684.1:g.50659166_50659246del	GRCh37
NC_000022.9:g.49001293_49001373del	NCBI36
NG_032160.1:g.29177_29257del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3564_3644del MANE Select	ENSP00000248846.5:p.Gly1189_His1215del
ENST00000248846.9:c.3564_3644del	ENSP00000248846.5:p.Gly1189_His1215del
ENST00000439308.6:c.3564_3644del	ENSP00000397387.2:p.Gly1189_His1215del
ENST00000491449.5:n.1871_1951del
ENST00000498611.5:n.3617+480_3617+560del
NM_020461.3:c.3564_3644del	NP_065194.2:p.Gly1189_His1215del
XR_938347.1:n.4129_4209del
XR_938348.1:n.3050-780_3050-700del
XR_001755343.2:n.4133_4213del
XR_001755344.2:n.4133_4213del
XR_002958720.1:n.3054-780_3054-700del
XR_938347.2:n.4133_4213del
NM_020461.4:c.3564_3644del MANE Select	NP_065194.3:p.Gly1189_His1215del