Canonical Allele Identifier: CA1103000940

Gene: FKBP6

Linked Data

• dbSNP Id: rs1804886616
• gnomAD v3: 7-73332708-TGAACTA-T
• gnomAD v4: 7-73332708-TGAACTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.73332712_73332717del , CM000669.2:g.73332712_73332717del	GRCh38
NC_000007.13:g.72746715_72746720del , CM000669.1:g.72746715_72746720del	GRCh37
NC_000007.12:g.72384651_72384656del	NCBI36
NG_023242.2:g.9557_9562del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252037.5:c.588+936_588+941del MANE Select	ENSP00000252037.4:n.588+936_588+941del
ENST00000648538.1:c.573+936_573+941del	ENSP00000497448.1:n.573+936_573+941del
ENST00000252037.4:c.588+936_588+941del	ENSP00000252037.4:n.588+936_588+941del
ENST00000413573.6:c.498+936_498+941del	ENSP00000394952.2:n.498+936_498+941del
ENST00000429879.5:c.573+951_573+956del	ENSP00000403908.1:n.573+951_573+956del
ENST00000431982.6:c.573+936_573+941del	ENSP00000416277.2:n.573+936_573+941del
ENST00000442793.5:c.453+2360_453+2365del	ENSP00000402360.1:n.453+2360_453+2365del
ENST00000445032.5:c.*667+936_*667+941del	ENSP00000415891.1:n.*667+936_*667+941del
NM_001135211.2:c.573+936_573+941del	NP_001128683.1:n.573+936_573+941del
NM_001281304.1:c.498+936_498+941del	NP_001268233.1:n.498+936_498+941del
NM_003602.4:c.588+936_588+941del	NP_003593.3:n.588+936_588+941del
XM_005250643.3:c.468+2360_468+2365del	XP_005250700.1:n.468+2360_468+2365del
XM_006716152.2:c.573+951_573+956del	XP_006716215.1:n.573+951_573+956del
XM_006716153.1:c.453+2360_453+2365del	XP_006716216.1:n.453+2360_453+2365del
XM_011516644.1:c.588+936_588+941del	XP_011514946.1:n.588+936_588+941del
NM_001362789.1:c.453+2360_453+2365del	NP_001349718.1:n.453+2360_453+2365del
XM_017012741.1:c.558+951_558+956del	XP_016868230.1:n.558+951_558+956del
XM_017012742.1:c.573+936_573+941del	XP_016868231.1:n.573+936_573+941del
NM_003602.5:c.588+936_588+941del MANE Select	NP_003593.3:n.588+936_588+941del
NM_001135211.3:c.573+936_573+941del	NP_001128683.1:n.573+936_573+941del
NM_001281304.2:c.498+936_498+941del	NP_001268233.1:n.498+936_498+941del
NM_001362789.2:c.453+2360_453+2365del	NP_001349718.1:n.453+2360_453+2365del