Canonical Allele Identifier: CA2657503490

Gene: TUBGCP6

Linked Data

• gnomAD v4: 22-50221173-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50221174_50221175del , CM000684.2:g.50221174_50221175del	GRCh38
NC_000022.10:g.50659603_50659604del , CM000684.1:g.50659603_50659604del	GRCh37
NC_000022.9:g.49001730_49001731del	NCBI36
NG_032160.1:g.28797_28798del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3184_3185del MANE Select	ENSP00000248846.5:p.Arg1062GlyfsTer?
ENST00000248846.9:c.3184_3185del	ENSP00000248846.5:p.Arg1062GlyfsTer?
ENST00000439308.6:c.3184_3185del	ENSP00000397387.2:p.Arg1062GlyfsTer?
ENST00000491449.5:n.1491_1492del
ENST00000498611.5:n.3617+100_3617+101del
NM_020461.3:c.3184_3185del	NP_065194.2:p.Arg1062GlyfsTer?
XR_938347.1:n.3749_3750del
XR_938348.1:n.3049+853_3049+854del
XR_001755343.2:n.3753_3754del
XR_001755344.2:n.3753_3754del
XR_002958720.1:n.3053+853_3053+854del
XR_938347.2:n.3753_3754del
NM_020461.4:c.3184_3185del MANE Select	NP_065194.3:p.Arg1062GlyfsTer?