Canonical Allele Identifier: CA1026636871

Gene: TUBGCP6

Linked Data

• dbSNP Id: rs2064510947
• gnomAD v3: 22-50220945-GGACACGTGCCCGTGGGTATTCCACCGTGGCCTGGTGGGAGCCACATCTGACACATTCTCCCCGACCCTGATGCTGGCGTTGGACACATGTCCATGGATGTTCCACCGTGGCCGAGTGGGAGCCACATCTGACACAGACTCCCCTAAGCTGATGCTGGCATTGGATACGTGTCCGTGGGTGTTCCACCGTGGCTGGGTGGGAGCCACATCTGACACATTCTCCCCGACCCTGATGCTGGCGTCA-G
• gnomAD v4: 22-50220945-GGACACGTGCCCGTGGGTATTCCACCGTGGCCTGGTGGGAGCCACATCTGACACATTCTCCCCGACCCTGATGCTGGCGTTGGACACATGTCCATGGATGTTCCACCGTGGCCGAGTGGGAGCCACATCTGACACAGACTCCCCTAAGCTGATGCTGGCATTGGATACGTGTCCGTGGGTGTTCCACCGTGGCTGGGTGGGAGCCACATCTGACACATTCTCCCCGACCCTGATGCTGGCGTCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220963_50221205del , CM000684.2:g.50220963_50221205del	GRCh38
NC_000022.10:g.50659392_50659634del , CM000684.1:g.50659392_50659634del	GRCh37
NC_000022.9:g.49001519_49001761del	NCBI36
NG_032160.1:g.28784_29026del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3171_3413del MANE Select	ENSP00000248846.5:p.Asp1058_Ser1138del
ENST00000248846.9:c.3171_3413del	ENSP00000248846.5:p.Asp1058_Ser1138del
ENST00000439308.6:c.3171_3413del	ENSP00000397387.2:p.Asp1058_Ser1138del
ENST00000491449.5:n.1478_1720del
ENST00000498611.5:n.3617+87_3617+329del
NM_020461.3:c.3171_3413del	NP_065194.2:p.Asp1058_Ser1138del
XR_938347.1:n.3736_3978del
XR_938348.1:n.3049+840_3050-931del
XR_001755343.2:n.3740_3982del
XR_001755344.2:n.3740_3982del
XR_002958720.1:n.3053+840_3054-931del
XR_938347.2:n.3740_3982del
NM_020461.4:c.3171_3413del MANE Select	NP_065194.3:p.Asp1058_Ser1138del