Canonical Allele Identifier: CA2819303282

Gene: TUBGCP6

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50221267_50221268insAAACACACCCAA , CM000684.2:g.50221267_50221268insAAACACACCCAA	GRCh38
NC_000022.10:g.50659696_50659697insAAACACACCCAA , CM000684.1:g.50659696_50659697insAAACACACCCAA	GRCh37
NC_000022.9:g.49001823_49001824insAAACACACCCAA	NCBI36
NG_032160.1:g.28704_28705insTTGGGTGTGTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3091_3092insTTGGGTGTGTTT MANE Select	ENSP00000248846.5:p.Gly1031delinsValGlyCysValTrp
ENST00000248846.9:c.3091_3092insTTGGGTGTGTTT	ENSP00000248846.5:p.Gly1031delinsValGlyCysValTrp
ENST00000439308.6:c.3091_3092insTTGGGTGTGTTT	ENSP00000397387.2:p.Gly1031delinsValGlyCysValTrp
ENST00000491449.5:n.1398_1399insTTGGGTGTGTTT
ENST00000498611.5:n.3617+7_3617+8insTTGGGTGTGTTT
NM_020461.3:c.3091_3092insTTGGGTGTGTTT	NP_065194.2:p.Gly1031delinsValGlyCysValTrp
XR_938347.1:n.3656_3657insTTGGGTGTGTTT
XR_938348.1:n.3049+760_3049+761insTTGGGTGTGTTT
XR_001755343.2:n.3660_3661insTTGGGTGTGTTT
XR_001755344.2:n.3660_3661insTTGGGTGTGTTT
XR_002958720.1:n.3053+760_3053+761insTTGGGTGTGTTT
XR_938347.2:n.3660_3661insTTGGGTGTGTTT
NM_020461.4:c.3091_3092insTTGGGTGTGTTT MANE Select	NP_065194.3:p.Gly1031delinsValGlyCysValTrp