Canonical Allele Identifier: CA4203479

Gene: FKBP14

Linked Data

• ClinVar Variation Id: 161456
• ClinVar RCV Id: RCV000148990
• dbSNP Id: rs747353360
• ExAC: 7:30065919 ATTAC / A
• gnomAD v2: 7-30065919-ATTAC-A
• gnomAD v3: 7-30026303-ATTAC-A
• gnomAD v4: 7-30026303-ATTAC-A
• MyVariant Identifiers: chr7:g.30065920_30065923del (hg19) ; chr7:g.30026304_30026307del (hg38)
• PubMed: PMID:24773188

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30026308_30026311del , CM000669.2:g.30026308_30026311del	GRCh38
NC_000007.13:g.30065924_30065927del , CM000669.1:g.30065924_30065927del	GRCh37
NC_000007.12:g.30032449_30032452del	NCBI36
NG_032173.1:g.5495_5498del , LRG_454:g.5495_5498del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222803.10:c.197+5_197+8del MANE Select	ENSP00000222803.5:n.197+5_197+8del
ENST00000222803.9:c.197+5_197+8del	ENSP00000222803.5:n.197+5_197+8del
ENST00000412494.1:c.108+5_108+8del
ENST00000419018.1:c.197+5_197+8del	ENSP00000406270.1:n.197+5_197+8del
ENST00000479939.1:n.325+5_325+8del
NM_017946.3:c.197+5_197+8del , LRG_454t1:c.197+5_197+8del	NP_060416.1:n.197+5_197+8del
NR_046478.1:n.490+5_490+8del
NR_046479.1:n.490+5_490+8del
NM_017946.4:c.197+5_197+8del MANE Select	NP_060416.1:n.197+5_197+8del
NR_046478.2:n.391+5_391+8del
NR_046479.2:n.391+5_391+8del