Canonical Allele Identifier: CA2591919264
Gene: TUBGCP6 HGNC NCBI

Linked Data

gnomAD v3: 22-50220801-GTTCCACCGTGGCCGGGCGGGAGCCATGTCTGACACAGACTCCCCCAAGCTGATGCTGGCATCGGACACGTGTCCATGGGTGTTCCACCGTGGCCGGGTGGGAGCCACGTCCGACACGTTCTCCCCAACCCTGATGCTGGCGTTGGACACGTGCCCGTGGGTA-G
gnomAD v4: 22-50220801-GTTCCACCGTGGCCGGGCGGGAGCCATGTCTGACACAGACTCCCCCAAGCTGATGCTGGCATCGGACACGTGTCCATGGGTGTTCCACCGTGGCCGGGTGGGAGCCACGTCCGACACGTTCTCCCCAACCCTGATGCTGGCGTTGGACACGTGCCCGTGGGTA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50220815_50220976del , CM000684.2:g.50220815_50220976del GRCh38
NC_000022.10:g.50659244_50659405del , CM000684.1:g.50659244_50659405del GRCh37
NC_000022.9:g.49001371_49001532del NCBI36
NG_032160.1:g.29009_29170del

Transcript Alleles

HGVS Amino-acid change
ENST00000248846.10:c.3396_3557del MANE Select ENSP00000248846.5:p.Thr1133_Asn1186del
ENST00000248846.9:c.3396_3557del ENSP00000248846.5:p.Thr1133_Asn1186del
ENST00000439308.6:c.3396_3557del ENSP00000397387.2:p.Thr1133_Asn1186del
ENST00000491449.5:n.1703_1864del
ENST00000498611.5:n.3617+312_3617+473del
NM_020461.3:c.3396_3557del NP_065194.2:p.Thr1133_Asn1186del
XR_938347.1:n.3961_4122del
XR_938348.1:n.3050-948_3050-787del
XR_001755343.2:n.3965_4126del
XR_001755344.2:n.3965_4126del
XR_002958720.1:n.3054-948_3054-787del
XR_938347.2:n.3965_4126del
NM_020461.4:c.3396_3557del MANE Select NP_065194.3:p.Thr1133_Asn1186del
Search 100 bp 5'
Search 100 bp 3'