Canonical Allele Identifier: CA1026636903

Gene: TUBGCP6

Linked Data

• gnomAD v3: 22-50220963-ATTCCACCGTGGCCTGGTGGGAGCCACATCTGACACATTCTCCCCGACCCTGATGCTGGCGTTGGACACATGTCCATGGATG-A
• gnomAD v4: 22-50220963-ATTCCACCGTGGCCTGGTGGGAGCCACATCTGACACATTCTCCCCGACCCTGATGCTGGCGTTGGACACATGTCCATGGATG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220977_50221057del , CM000684.2:g.50220977_50221057del	GRCh38
NC_000022.10:g.50659406_50659486del , CM000684.1:g.50659406_50659486del	GRCh37
NC_000022.9:g.49001533_49001613del	NCBI36
NG_032160.1:g.28928_29008del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3315_3395del MANE Select	ENSP00000248846.5:p.Ile1106_Asn1132del
ENST00000248846.9:c.3315_3395del	ENSP00000248846.5:p.Ile1106_Asn1132del
ENST00000439308.6:c.3315_3395del	ENSP00000397387.2:p.Ile1106_Asn1132del
ENST00000491449.5:n.1622_1702del
ENST00000498611.5:n.3617+231_3617+311del
NM_020461.3:c.3315_3395del	NP_065194.2:p.Ile1106_Asn1132del
XR_938347.1:n.3880_3960del
XR_938348.1:n.3049+984_3050-949del
XR_001755343.2:n.3884_3964del
XR_001755344.2:n.3884_3964del
XR_002958720.1:n.3053+984_3054-949del
XR_938347.2:n.3884_3964del
NM_020461.4:c.3315_3395del MANE Select	NP_065194.3:p.Ile1106_Asn1132del