Canonical Allele Identifier: CA2657503851
Gene: TUBGCP6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50221238_50221239insCAC , CM000684.2:g.50221238_50221239insCAC GRCh38
NC_000022.10:g.50659667_50659668insCAC , CM000684.1:g.50659667_50659668insCAC GRCh37
NC_000022.9:g.49001794_49001795insCAC NCBI36
NG_032160.1:g.28733_28734insGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3120_3121insGTG MANE Select ENSP00000248846.5:p.Ala1040_Ser1041insVal
ENST00000248846.9:c.3120_3121insGTG ENSP00000248846.5:p.Ala1040_Ser1041insVal
ENST00000439308.6:c.3120_3121insGTG ENSP00000397387.2:p.Ala1040_Ser1041insVal
ENST00000491449.5:n.1427_1428insGTG
ENST00000498611.5:n.3617+36_3617+37insGTG
NM_020461.3:c.3120_3121insGTG NP_065194.2:p.Ala1040_Ser1041insVal
XR_938347.1:n.3685_3686insGTG
XR_938348.1:n.3049+789_3049+790insGTG
XR_001755343.2:n.3689_3690insGTG
XR_001755344.2:n.3689_3690insGTG
XR_002958720.1:n.3053+789_3053+790insGTG
XR_938347.2:n.3689_3690insGTG
NM_020461.4:c.3120_3121insGTG MANE Select NP_065194.3:p.Ala1040_Ser1041insVal