Canonical Allele Identifier: CA358713

Gene: FKBP10

Linked Data

• ClinVar Variation Id: 208427
• ClinVar RCV Id: RCV000190460 ; RCV000598565 ; RCV003993877
• dbSNP Id: rs869320752
• MyVariant Identifiers: chr17:g.39975611_39975613del (hg19) ; chr17:g.41819359_41819361del (hg38)
• PubMed: PMID:23712425

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41819359_41819361del , CM000679.2:g.41819359_41819361del	GRCh38
NC_000017.10:g.39975611_39975613del , CM000679.1:g.39975611_39975613del	GRCh37
NC_000017.9:g.37229137_37229139del	NCBI36
NG_015860.1:g.11650_11652del , LRG_12:g.11650_11652del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706683.1:c.727+832_727+834del	ENSP00000516497.1:n.727+832_727+834del
ENST00000321562.9:c.877_879del MANE Select	ENSP00000317232.4:p.Tyr293del
ENST00000321562.8:c.877_879del	ENSP00000317232.4:p.Tyr293del
ENST00000455106.1:c.105_107del
ENST00000487489.1:n.490_492del
ENST00000489591.5:c.*287_*289del	ENSP00000466352.1:n.*287_*289del
NM_021939.3:c.877_879del , LRG_12t1:c.877_879del	NP_068758.3:p.Tyr293del
XM_011525099.1:c.877_879del	XP_011523401.1:p.Tyr293del
XM_011525100.1:c.604_606del	XP_011523402.1:p.Tyr202del
XM_011525099.3:c.877_879del	XP_011523401.1:p.Tyr293del
XM_011525100.2:c.604_606del	XP_011523402.1:p.Tyr202del
NM_021939.4:c.877_879del MANE Select	NP_068758.3:p.Tyr293del