Canonical Allele Identifier: CA10308054
Gene: TUBGCP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1071616
ClinVar RCV Id: RCV001384129
dbSNP Id: rs1491234697
ExAC: 22:50659696 CCT / C
gnomAD v2: 22-50659696-CCT-C
gnomAD v3: 22-50221267-CCT-C
gnomAD v4: 22-50221267-CCT-C
MyVariant Identifiers: chr22:g.50659697_50659698del (hg19) chr22:g.50221268_50221269del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50221268_50221269del , CM000684.2:g.50221268_50221269del GRCh38
NC_000022.10:g.50659697_50659698del , CM000684.1:g.50659697_50659698del GRCh37
NC_000022.9:g.49001824_49001825del NCBI36
NG_032160.1:g.28703_28704del

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3090_3091del MANE Select ENSP00000248846.5:p.Gly1032TrpfsTer10
ENST00000248846.9:c.3090_3091del ENSP00000248846.5:p.Gly1032TrpfsTer10
ENST00000439308.6:c.3090_3091del ENSP00000397387.2:p.Gly1032TrpfsTer10
ENST00000491449.5:n.1397_1398del
ENST00000498611.5:n.3617+6_3617+7del
NM_020461.3:c.3090_3091del NP_065194.2:p.Gly1032TrpfsTer10
XR_938347.1:n.3655_3656del
XR_938348.1:n.3049+759_3049+760del
XR_001755343.2:n.3659_3660del
XR_001755344.2:n.3659_3660del
XR_002958720.1:n.3053+759_3053+760del
XR_938347.2:n.3659_3660del
NM_020461.4:c.3090_3091del MANE Select NP_065194.3:p.Gly1032TrpfsTer10
Search 100 bp 5'
Search 100 bp 3'