Canonical Allele Identifier: CA325464006

Gene: TUBGCP6

Linked Data

• dbSNP Id: rs35048016
• MyVariant Identifiers: chr22:g.50662811_50662812insC (hg19) ; chr22:g.50224382_50224383insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50224384dup , CM000684.2:g.50224384dup	GRCh38
NC_000022.10:g.50662813dup , CM000684.1:g.50662813dup	GRCh37
NC_000022.9:g.49004940dup	NCBI36
NG_032160.1:g.25589dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.2103dup MANE Select	ENSP00000248846.5:p.Lys702GlufsTer3
ENST00000248846.9:c.2103dup	ENSP00000248846.5:p.Lys702GlufsTer3
ENST00000439308.6:c.2103dup	ENSP00000397387.2:p.Lys702GlufsTer3
ENST00000473946.1:n.412dup
ENST00000489511.5:n.120dup
ENST00000491449.5:n.410dup
ENST00000498611.5:n.2636dup
NM_020461.3:c.2103dup	NP_065194.2:p.Lys702GlufsTer3
XR_938347.1:n.2668dup
XR_938348.1:n.2668dup
XR_001755343.2:n.2672dup
XR_001755344.2:n.2672dup
XR_002958720.1:n.2672dup
XR_938347.2:n.2672dup
NM_020461.4:c.2103dup MANE Select	NP_065194.3:p.Lys702GlufsTer3