Canonical Allele Identifier: CA2499225525

Gene: FKRP

Linked Data

• ClinVar Variation Id: 1072170
• ClinVar RCV Id: RCV001384821
• dbSNP Id: rs2122627673

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46756397_46756398insA , CM000681.2:g.46756397_46756398insA	GRCh38
NC_000019.9:g.47259654_47259655insA , CM000681.1:g.47259654_47259655insA	GRCh37
NC_000019.8:g.51951494_51951495insA	NCBI36
NG_008898.2:g.15352_15353insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318584.10:c.947_948insA MANE Select	ENSP00000326570.4:p.Cys317LeufsTer?
ENST00000318584.9:c.947_948insA	ENSP00000326570.4:p.Cys317LeufsTer?
ENST00000391909.7:c.947_948insA	ENSP00000375776.2:p.Cys317LeufsTer?
ENST00000597339.5:n.247-5436_247-5435insA
ENST00000600646.5:n.247+7732_247+7733insA
NM_001039885.2:c.947_948insA	NP_001034974.1:p.Cys317LeufsTer?
NM_024301.4:c.947_948insA	NP_077277.1:p.Cys317LeufsTer?
XM_005259247.1:c.947_948insA	XP_005259304.1:p.Cys317LeufsTer?
XM_005259248.1:c.947_948insA	XP_005259305.1:p.Cys317LeufsTer?
XM_005259249.3:c.947_948insA	XP_005259306.1:p.Cys317LeufsTer?
XM_005259250.3:c.947_948insA	XP_005259307.1:p.Cys317LeufsTer?
XM_011527301.1:c.947_948insA	XP_011525603.1:p.Cys317LeufsTer?
XM_011527302.1:c.947_948insA	XP_011525604.1:p.Cys317LeufsTer?
XM_011527303.1:c.947_948insA	XP_011525605.1:p.Cys317LeufsTer?
XM_011527304.1:c.947_948insA	XP_011525606.1:p.Cys317LeufsTer?
XM_011527305.1:c.947_948insA	XP_011525607.1:p.Cys317LeufsTer?
XM_011527306.1:c.947_948insA	XP_011525608.1:p.Cys317LeufsTer?
XM_011527307.1:c.947_948insA	XP_011525609.1:p.Cys317LeufsTer?
XM_005259247.2:c.947_948insA	XP_005259304.1:p.Cys317LeufsTer?
XM_005259248.2:c.947_948insA	XP_005259305.1:p.Cys317LeufsTer?
XM_005259249.4:c.947_948insA	XP_005259306.1:p.Cys317LeufsTer?
XM_011527306.2:c.947_948insA	XP_011525608.1:p.Cys317LeufsTer?
XM_017027297.2:c.947_948insA	XP_016882786.1:p.Cys317LeufsTer?
XM_024451707.1:c.947_948insA	XP_024307475.1:p.Cys317LeufsTer?
NM_001039885.3:c.947_948insA	NP_001034974.1:p.Cys317LeufsTer?
NM_024301.5:c.947_948insA MANE Select	NP_077277.1:p.Cys317LeufsTer?