Canonical Allele Identifier: CA10308386

Gene: TUBGCP6

Linked Data

• ClinVar Variation Id: 1038135
• ClinVar RCV Id: RCV001341405
• dbSNP Id: rs758225744
• ExAC: 22:50662939 CCACTCAGTG / C
• gnomAD v2: 22-50662939-CCACTCAGTG-C
• gnomAD v4: 22-50224510-CCACTCAGTG-C
• MyVariant Identifiers: chr22:g.50662940_50662948del (hg19) ; chr22:g.50224511_50224519del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50224518_50224526del , CM000684.2:g.50224518_50224526del	GRCh38
NC_000022.10:g.50662947_50662955del , CM000684.1:g.50662947_50662955del	GRCh37
NC_000022.9:g.49005074_49005082del	NCBI36
NG_032160.1:g.25453_25461del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248846.10:c.2057_2065del MANE Select	ENSP00000248846.5:p.Ala686_Ser688del
ENST00000248846.9:c.2057_2065del	ENSP00000248846.5:p.Ala686_Ser688del
ENST00000439308.6:c.2057_2065del	ENSP00000397387.2:p.Ala686_Ser688del
ENST00000473946.1:n.366_374del
ENST00000489511.5:n.74_82del
ENST00000491449.5:n.364_372del
ENST00000498611.5:n.2590_2598del
NM_020461.3:c.2057_2065del	NP_065194.2:p.Ala686_Ser688del
XR_938347.1:n.2622_2630del
XR_938348.1:n.2622_2630del
XR_001755343.2:n.2626_2634del
XR_001755344.2:n.2626_2634del
XR_002958720.1:n.2626_2634del
XR_938347.2:n.2626_2634del
NM_020461.4:c.2057_2065del MANE Select	NP_065194.3:p.Ala686_Ser688del