Canonical Allele Identifier: CA2741725000

Gene: TUBGCP6

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50221189_50221190insGGTGGGTGTTCC , CM000684.2:g.50221189_50221190insGGTGGGTGTTCC	GRCh38
NC_000022.10:g.50659618_50659619insGGTGGGTGTTCC , CM000684.1:g.50659618_50659619insGGTGGGTGTTCC	GRCh37
NC_000022.9:g.49001745_49001746insGGTGGGTGTTCC	NCBI36
NG_032160.1:g.28782_28783insGGAACACCCACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3169_3170insGGAACACCCACC MANE Select	ENSP00000248846.5:p.Ser1057delinsTrpAsnThrHisPro
ENST00000248846.9:c.3169_3170insGGAACACCCACC	ENSP00000248846.5:p.Ser1057delinsTrpAsnThrHisPro
ENST00000439308.6:c.3169_3170insGGAACACCCACC	ENSP00000397387.2:p.Ser1057delinsTrpAsnThrHisPro
ENST00000491449.5:n.1476_1477insGGAACACCCACC
ENST00000498611.5:n.3617+85_3617+86insGGAACACCCACC
NM_020461.3:c.3169_3170insGGAACACCCACC	NP_065194.2:p.Ser1057delinsTrpAsnThrHisPro
XR_938347.1:n.3734_3735insGGAACACCCACC
XR_938348.1:n.3049+838_3049+839insGGAACACCCACC
XR_001755343.2:n.3738_3739insGGAACACCCACC
XR_001755344.2:n.3738_3739insGGAACACCCACC
XR_002958720.1:n.3053+838_3053+839insGGAACACCCACC
XR_938347.2:n.3738_3739insGGAACACCCACC
NM_020461.4:c.3169_3170insGGAACACCCACC MANE Select	NP_065194.3:p.Ser1057delinsTrpAsnThrHisPro