Canonical Allele Identifier: CA2657502270

Gene: TUBGCP6

Linked Data

• gnomAD v4: 22-50220720-GTTCCACCGTGGCCGGGTGGGAGCCATGTCTGACACAGACTCCCCCAAGCTGATGCTGGCATCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220721_50220783del , CM000684.2:g.50220721_50220783del	GRCh38
NC_000022.10:g.50659150_50659212del , CM000684.1:g.50659150_50659212del	GRCh37
NC_000022.9:g.49001277_49001339del	NCBI36
NG_032160.1:g.29189_29251del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3576_3638del MANE Select	ENSP00000248846.5:p.Asp1193_Asn1213del
ENST00000248846.9:c.3576_3638del	ENSP00000248846.5:p.Asp1193_Asn1213del
ENST00000439308.6:c.3576_3638del	ENSP00000397387.2:p.Asp1193_Asn1213del
ENST00000491449.5:n.1883_1945del
ENST00000498611.5:n.3617+492_3617+554del
NM_020461.3:c.3576_3638del	NP_065194.2:p.Asp1193_Asn1213del
XR_938347.1:n.4141_4203del
XR_938348.1:n.3050-768_3050-706del
XR_001755343.2:n.4145_4207del
XR_001755344.2:n.4145_4207del
XR_002958720.1:n.3054-768_3054-706del
XR_938347.2:n.4145_4207del
NM_020461.4:c.3576_3638del MANE Select	NP_065194.3:p.Asp1193_Asn1213del