Canonical Allele Identifier: CA4203419
Gene: FKBP14 HGNC NCBI
FKBP14-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 279809
ClinVar RCV Id: RCV000262568 RCV000415176 RCV000533832 RCV000623711 RCV002460064
dbSNP Id: rs542489955
ExAC: 7:30058726 T / TG
gnomAD v2: 7-30058726-T-TG
gnomAD v3: 7-30019110-T-TG
gnomAD v4: 7-30019110-T-TG
MyVariant Identifiers: chr7:g.30058727dupG (hg19) chr7:g.30058726_30058727insG (hg19) chr7:g.30019111dupG (hg38) chr7:g.30019110_30019111insG (hg38)
PubMed: PMID:22265013 PMID:24677762 PMID:24773188 PMID:27149304
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30019115dup , CM000669.2:g.30019115dup GRCh38
NC_000007.13:g.30058731dup , CM000669.1:g.30058731dup GRCh37
NC_000007.12:g.30025256dup NCBI36
NG_032173.1:g.12691dup , LRG_454:g.12691dup

Transcript Alleles

HGVS Amino-acid change
ENST00000222803.10:c.362dup (FKBP14) MANE Select ENSP00000222803.5:p.Glu122ArgfsTer7
ENST00000222803.9:c.362dup (FKBP14) ENSP00000222803.5:p.Glu122ArgfsTer7
ENST00000412494.1:c.365dup (FKBP14)
ENST00000419018.1:c.*9dup (FKBP14) ENSP00000406270.1:n.*9dup
NM_017946.3:c.362dup , LRG_454t1:c.362dup (FKBP14) NP_060416.1:p.Glu122ArgfsTer7
NR_046478.1:n.747dup (FKBP14)
NR_046479.1:n.503dup (FKBP14)
XR_927144.1:n.1570-6272dup (FKBP14-AS1)
XR_927145.1:n.1139-6272dup (FKBP14-AS1)
XR_927145.3:n.345-6272dup (FKBP14-AS1)
NM_017946.4:c.362dup (FKBP14) MANE Select NP_060416.1:p.Glu122ArgfsTer7
NR_046478.2:n.648dup (FKBP14)
NR_046479.2:n.404dup (FKBP14)
Search 100 bp 5'
Search 100 bp 3'