Canonical Allele Identifier: CA1026636945

Gene: TUBGCP6

Linked Data

• gnomAD v3: 22-50220986-C-CTATTTCAGAAGCGTAGT
• gnomAD v4: 22-50220986-C-CTATTTCAGAAGCGTAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220986_50220987insTATTTCAGAAGCGTAGT , CM000684.2:g.50220986_50220987insTATTTCAGAAGCGTAGT	GRCh38
NC_000022.10:g.50659415_50659416insTATTTCAGAAGCGTAGT , CM000684.1:g.50659415_50659416insTATTTCAGAAGCGTAGT	GRCh37
NC_000022.9:g.49001542_49001543insTATTTCAGAAGCGTAGT	NCBI36
NG_032160.1:g.28985_28986insACTACGCTTCTGAAATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3372_3373insACTACGCTTCTGAAATA MANE Select	ENSP00000248846.5:p.Ala1125ThrfsTer6
ENST00000248846.9:c.3372_3373insACTACGCTTCTGAAATA	ENSP00000248846.5:p.Ala1125ThrfsTer6
ENST00000439308.6:c.3372_3373insACTACGCTTCTGAAATA	ENSP00000397387.2:p.Ala1125ThrfsTer6
ENST00000491449.5:n.1679_1680insACTACGCTTCTGAAATA
ENST00000498611.5:n.3617+288_3617+289insACTACGCTTCTGAAATA
NM_020461.3:c.3372_3373insACTACGCTTCTGAAATA	NP_065194.2:p.Ala1125ThrfsTer6
XR_938347.1:n.3937_3938insACTACGCTTCTGAAATA
XR_938348.1:n.3050-972_3050-971insACTACGCTTCTGAAATA
XR_001755343.2:n.3941_3942insACTACGCTTCTGAAATA
XR_001755344.2:n.3941_3942insACTACGCTTCTGAAATA
XR_002958720.1:n.3054-972_3054-971insACTACGCTTCTGAAATA
XR_938347.2:n.3941_3942insACTACGCTTCTGAAATA
NM_020461.4:c.3372_3373insACTACGCTTCTGAAATA MANE Select	NP_065194.3:p.Ala1125ThrfsTer6