Canonical Allele Identifier: CA2657502847

Gene: TUBGCP6

Linked Data

• gnomAD v4: 22-50220951-GTGCCCGTGGGTATTCCACCGTGGCCTGGTGGGAGCCACATCTGACACATTCTCCCCGACCCTGATGCTGGCGTTGGACACA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220954_50221034del , CM000684.2:g.50220954_50221034del	GRCh38
NC_000022.10:g.50659383_50659463del , CM000684.1:g.50659383_50659463del	GRCh37
NC_000022.9:g.49001510_49001590del	NCBI36
NG_032160.1:g.28940_29020del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3327_3407del MANE Select	ENSP00000248846.5:p.Val1110_His1136del
ENST00000248846.9:c.3327_3407del	ENSP00000248846.5:p.Val1110_His1136del
ENST00000439308.6:c.3327_3407del	ENSP00000397387.2:p.Val1110_His1136del
ENST00000491449.5:n.1634_1714del
ENST00000498611.5:n.3617+243_3617+323del
NM_020461.3:c.3327_3407del	NP_065194.2:p.Val1110_His1136del
XR_938347.1:n.3892_3972del
XR_938348.1:n.3049+996_3050-937del
XR_001755343.2:n.3896_3976del
XR_001755344.2:n.3896_3976del
XR_002958720.1:n.3053+996_3054-937del
XR_938347.2:n.3896_3976del
NM_020461.4:c.3327_3407del MANE Select	NP_065194.3:p.Val1110_His1136del