Canonical Allele Identifier: CA2657502446
Gene: TUBGCP6 HGNC NCBI

Linked Data

gnomAD v4: 22-50220763-CCCAAG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50220765_50220769del , CM000684.2:g.50220765_50220769del GRCh38
NC_000022.10:g.50659194_50659198del , CM000684.1:g.50659194_50659198del GRCh37
NC_000022.9:g.49001321_49001325del NCBI36
NG_032160.1:g.29204_29208del

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3591_3595del MANE Select ENSP00000248846.5:p.Ser1197ArgfsTer22
ENST00000248846.9:c.3591_3595del ENSP00000248846.5:p.Ser1197ArgfsTer22
ENST00000439308.6:c.3591_3595del ENSP00000397387.2:p.Ser1197ArgfsTer22
ENST00000491449.5:n.1898_1902del
ENST00000498611.5:n.3617+507_3617+511del
NM_020461.3:c.3591_3595del NP_065194.2:p.Ser1197ArgfsTer22
XR_938347.1:n.4156_4160del
XR_938348.1:n.3050-753_3050-749del
XR_001755343.2:n.4160_4164del
XR_001755344.2:n.4160_4164del
XR_002958720.1:n.3054-753_3054-749del
XR_938347.2:n.4160_4164del
NM_020461.4:c.3591_3595del MANE Select NP_065194.3:p.Ser1197ArgfsTer22
Search 100 bp 5'
Search 100 bp 3'