Canonical Allele Identifier: CA8566372

Gene: FKBP10

Linked Data

• ClinVar Variation Id: 438659
• ClinVar RCV Id: RCV000003711 ; RCV000034358 ; RCV000505676 ; RCV000514347 ; RCV000735367 ; RCV001814173 ; RCV003156099
• dbSNP Id: rs137853883
• ExAC: 17:39975558 T / TC
• gnomAD v2: 17-39975558-T-TC
• gnomAD v3: 17-41819306-T-TC
• gnomAD v4: 17-41819306-T-TC
• COSMIC: COSM6048722
• MyVariant Identifiers: chr17:g.39975565dup (hg19) ; chr17:g.39975559_39975560insC (hg19) ; chr17:g.39975558_39975559insC (hg19) ; chr17:g.41819313dup (hg38) ; chr17:g.41819307_41819308insC (hg38) ; chr17:g.41819306_41819307insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41819313dup , CM000679.2:g.41819313dup	GRCh38
NC_000017.10:g.39975565dup , CM000679.1:g.39975565dup	GRCh37
NC_000017.9:g.37229091dup	NCBI36
NG_015860.1:g.11604dup , LRG_12:g.11604dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706683.1:c.727+786dup	ENSP00000516497.1:n.727+786dup
ENST00000321562.9:c.831dup MANE Select	ENSP00000317232.4:p.Gly278ArgfsTer?
ENST00000321562.8:c.831dup	ENSP00000317232.4:p.Gly278ArgfsTer?
ENST00000455106.1:c.59dup
ENST00000487489.1:n.444dup
ENST00000489591.5:c.*241dup	ENSP00000466352.1:n.*241dup
NM_021939.3:c.831dup , LRG_12t1:c.831dup	NP_068758.3:p.Gly278ArgfsTer?
XM_011525099.1:c.831dup	XP_011523401.1:p.Gly278ArgfsTer?
XM_011525100.1:c.558dup	XP_011523402.1:p.Gly187ArgfsTer?
XM_011525099.3:c.831dup	XP_011523401.1:p.Gly278ArgfsTer?
XM_011525100.2:c.558dup	XP_011523402.1:p.Gly187ArgfsTer?
NM_021939.4:c.831dup MANE Select	NP_068758.3:p.Gly278ArgfsTer?