Canonical Allele Identifier: CA2657503299
Gene: TUBGCP6 HGNC NCBI

Linked Data

gnomAD v4: 22-50221107-GGATACGTGTCCGTGGGTGTTCCACCGTGGCTGGGTGGGAGCCACATCTGACACATTCTCCCCGACCCTGATGCTGGCGTCA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50221110_50221190del , CM000684.2:g.50221110_50221190del GRCh38
NC_000022.10:g.50659539_50659619del , CM000684.1:g.50659539_50659619del GRCh37
NC_000022.9:g.49001666_49001746del NCBI36
NG_032160.1:g.28784_28864del

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3171_3251del MANE Select ENSP00000248846.5:p.Asp1058_Ser1084del
ENST00000248846.9:c.3171_3251del ENSP00000248846.5:p.Asp1058_Ser1084del
ENST00000439308.6:c.3171_3251del ENSP00000397387.2:p.Asp1058_Ser1084del
ENST00000491449.5:n.1478_1558del
ENST00000498611.5:n.3617+87_3617+167del
NM_020461.3:c.3171_3251del NP_065194.2:p.Asp1058_Ser1084del
XR_938347.1:n.3736_3816del
XR_938348.1:n.3049+840_3049+920del
XR_001755343.2:n.3740_3820del
XR_001755344.2:n.3740_3820del
XR_002958720.1:n.3053+840_3053+920del
XR_938347.2:n.3740_3820del
NM_020461.4:c.3171_3251del MANE Select NP_065194.3:p.Asp1058_Ser1084del
Search 100 bp 5'
Search 100 bp 3'