Canonical Allele Identifier: CA130901

Gene: FKBP10

Linked Data

• ClinVar Variation Id: 41899
• ClinVar RCV Id: RCV000034825 ; RCV003556109
• dbSNP Id: rs387907325
• MyVariant Identifiers: chr17:g.39975812dupT (hg19) ; chr17:g.41819560dupT (hg38)
• PubMed: PMID:22949511

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41819560dup , CM000679.2:g.41819560dup	GRCh38
NC_000017.10:g.39975812dup , CM000679.1:g.39975812dup	GRCh37
NC_000017.9:g.37229338dup	NCBI36
NG_015860.1:g.11851dup , LRG_12:g.11851dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706683.1:c.728-709dup	ENSP00000516497.1:n.728-709dup
ENST00000321562.9:c.948dup MANE Select	ENSP00000317232.4:p.Ile317TyrfsTer?
ENST00000321562.8:c.948dup	ENSP00000317232.4:p.Ile317TyrfsTer?
ENST00000455106.1:c.176dup
ENST00000487489.1:n.561dup
ENST00000489591.5:c.*358dup	ENSP00000466352.1:n.*358dup
NM_021939.3:c.948dup , LRG_12t1:c.948dup	NP_068758.3:p.Ile317TyrfsTer?
XM_011525099.1:c.948dup	XP_011523401.1:p.Ile317TyrfsTer?
XM_011525100.1:c.675dup	XP_011523402.1:p.Ile226TyrfsTer?
XM_011525099.3:c.948dup	XP_011523401.1:p.Ile317TyrfsTer?
XM_011525100.2:c.675dup	XP_011523402.1:p.Ile226TyrfsTer?
NM_021939.4:c.948dup MANE Select	NP_068758.3:p.Ile317TyrfsTer?