Canonical Allele Identifier: CA8566555
Gene: FKBP10 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.41820470del
GRCh37 chr17:g.39976722del
gnomAD v2:
17:39976721 CG / C
gnomAD v3:
17:41820469 CG / C
gnomAD v4:
chr17-41820469-CG-C
Joint Max Group AF 0.00078989 (NFE)
Genomes Max Group AF 0.00003471 (AFR)
Exomes Max Group AF 0.00088428 (NFE)
ClinVar RCV:
RCV001521265
RCV002276756
ClinVar Variation:
1169667
dbSNP:
55720039
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41820478del , CM000679.2:g.41820478del GRCh38
NC_000017.10:g.39976730del , CM000679.1:g.39976730del GRCh37
NC_000017.9:g.37230256del NCBI36
NG_015860.1:g.12769del , LRG_12:g.12769del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706683.1:c.920+17del ENSP00000516497.1:n.920+17del
ENST00000321562.9:c.1256+17del MANE Select ENSP00000317232.4:n.1256+17del
ENST00000321562.8:c.1256+17del ENSP00000317232.4:n.1256+17del
ENST00000455106.1:c.667+17del
ENST00000464180.1:n.36del
ENST00000489591.5:c.*1040+17del ENSP00000466352.1:n.*1040+17del
ENST00000490938.5:n.459+17del
NM_021939.3:c.1256+17del , LRG_12t1:c.1256+17del NP_068758.3:n.1256+17del
XM_011525099.1:c.1256+17del XP_011523401.1:n.1256+17del
XM_011525100.1:c.983+17del XP_011523402.1:n.983+17del
XM_011525099.3:c.1256+17del XP_011523401.1:n.1256+17del
XM_011525100.2:c.983+17del XP_011523402.1:n.983+17del
NM_021939.4:c.1256+17del MANE Select NP_068758.3:n.1256+17del
Search 100 bp 5'
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