Canonical Allele Identifier: CA2657503876
Gene: TUBGCP6 HGNC NCBI

Linked Data

gnomAD v4: 22-50221241-CG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50221242del , CM000684.2:g.50221242del GRCh38
NC_000022.10:g.50659671del , CM000684.1:g.50659671del GRCh37
NC_000022.9:g.49001798del NCBI36
NG_032160.1:g.28730del

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3117del MANE Select ENSP00000248846.5:p.Tyr1039Ter
ENST00000248846.9:c.3117del ENSP00000248846.5:p.Tyr1039Ter
ENST00000439308.6:c.3117del ENSP00000397387.2:p.Tyr1039Ter
ENST00000491449.5:n.1424del
ENST00000498611.5:n.3617+33del
NM_020461.3:c.3117del NP_065194.2:p.Tyr1039Ter
XR_938347.1:n.3682del
XR_938348.1:n.3049+786del
XR_001755343.2:n.3686del
XR_001755344.2:n.3686del
XR_002958720.1:n.3053+786del
XR_938347.2:n.3686del
NM_020461.4:c.3117del MANE Select NP_065194.3:p.Tyr1039Ter
Search 100 bp 5'
Search 100 bp 3'