Canonical Allele Identifier: CA1026636519

Gene: TUBGCP6

Linked Data

• gnomAD v3: 22-50220711-TCCGTGGGTGTTCCACCGTGGCCGGGTGGGAGCCATGTCTGACACAGACTCCCCCAAGCTGATGCTGGCATCAGACACGTGTCCATGGGTGTTCCACCGTGGCCGGGCGGGAGCCATGTCTGACACAGACTCCCCCAAGCTGATGCTGGCATCGGACACGTGTCCATGGGTGTTCCACCGTGGCCGGGTGGGAGCCACGTCCGACACGTTCTCCCCAACCCTGATGCTGGCGTTGGACACGTGC-T
• gnomAD v4: 22-50220711-TCCGTGGGTGTTCCACCGTGGCCGGGTGGGAGCCATGTCTGACACAGACTCCCCCAAGCTGATGCTGGCATCAGACACGTGTCCATGGGTGTTCCACCGTGGCCGGGCGGGAGCCATGTCTGACACAGACTCCCCCAAGCTGATGCTGGCATCGGACACGTGTCCATGGGTGTTCCACCGTGGCCGGGTGGGAGCCACGTCCGACACGTTCTCCCCAACCCTGATGCTGGCGTTGGACACGTGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220720_50220962del , CM000684.2:g.50220720_50220962del	GRCh38
NC_000022.10:g.50659149_50659391del , CM000684.1:g.50659149_50659391del	GRCh37
NC_000022.9:g.49001276_49001518del	NCBI36
NG_032160.1:g.29018_29260del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3405_3647del MANE Select	ENSP00000248846.5:p.His1136_Gly1216del
ENST00000248846.9:c.3405_3647del	ENSP00000248846.5:p.His1136_Gly1216del
ENST00000439308.6:c.3405_3647del	ENSP00000397387.2:p.His1136_Gly1216del
ENST00000491449.5:n.1712_1954del
ENST00000498611.5:n.3617+321_3617+563del
NM_020461.3:c.3405_3647del	NP_065194.2:p.His1136_Gly1216del
XR_938347.1:n.3970_4212del
XR_938348.1:n.3050-939_3050-697del
XR_001755343.2:n.3974_4216del
XR_001755344.2:n.3974_4216del
XR_002958720.1:n.3054-939_3054-697del
XR_938347.2:n.3974_4216del
NM_020461.4:c.3405_3647del MANE Select	NP_065194.3:p.His1136_Gly1216del