Canonical Allele Identifier: CA2657501863
Gene: TUBGCP6 HGNC NCBI

Linked Data

gnomAD v4: 22-50220443-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50220444del , CM000684.2:g.50220444del GRCh38
NC_000022.10:g.50658873del , CM000684.1:g.50658873del GRCh37
NC_000022.9:g.49001000del NCBI36
NG_032160.1:g.29528del

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3915del MANE Select ENSP00000248846.5:p.Leu1306SerfsTer18
ENST00000248846.9:c.3915del ENSP00000248846.5:p.Leu1306SerfsTer18
ENST00000439308.6:c.3915del ENSP00000397387.2:p.Leu1306SerfsTer18
ENST00000491449.5:n.2222del
ENST00000498611.5:n.3618-429del
NM_020461.3:c.3915del NP_065194.2:p.Leu1306SerfsTer18
XR_938347.1:n.4480del
XR_938348.1:n.3050-429del
XR_001755343.2:n.4484del
XR_001755344.2:n.4484del
XR_002958720.1:n.3054-429del
XR_938347.2:n.4484del
NM_020461.4:c.3915del MANE Select NP_065194.3:p.Leu1306SerfsTer18
Search 100 bp 5'
Search 100 bp 3'