Canonical Allele Identifier: CA2339067027

Gene: FKRP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46755447_46755458delinsCCCCATGCGGCT , CM000681.2:g.46755447_46755458delinsCCCCATGCGGCT	GRCh38
NC_000019.9:g.47258704_47258715delinsCCCCATGCGGCT , CM000681.1:g.47258704_47258715delinsCCCCATGCGGCT	GRCh37
NC_000019.8:g.51950544_51950555delinsCCCCATGCGGCT	NCBI36
NG_008898.2:g.14402_14413delinsCCCCATGCGGCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000318584.10:c.-4_8delinsCCCCATGCGGCT
ENST00000318584.9:c.-4_8delinsCCCCATGCGGCT
ENST00000391909.7:c.-4_8delinsCCCCATGCGGCT
ENST00000593800.5:c.-4_8delinsCCCCATGCGGCT
ENST00000593875.5:c.-4_8delinsCCCCATGCGGCT
ENST00000593877.1:c.-4_8delinsCCCCATGCGGCT
ENST00000593902.1:c.-4_8delinsCCCCATGCGGCT
ENST00000594467.5:c.-345-88_-345-77delinsCCCCATGCGGCT	ENSP00000471971.1:n.-345-88_-345-77delinsCCCCATGCGGCT
ENST00000595570.5:c.-4_8delinsCCCCATGCGGCT
ENST00000595868.5:c.-4_8delinsCCCCATGCGGCT
ENST00000596460.5:c.-4_8delinsCCCCATGCGGCT
ENST00000596974.5:n.311-88_311-77delinsCCCCATGCGGCT
ENST00000597313.5:c.-4_8delinsCCCCATGCGGCT
ENST00000597339.5:n.247-6386_247-6375delinsCCCCATGCGGCT
ENST00000598271.5:c.-4_8delinsCCCCATGCGGCT
ENST00000600005.5:c.-4_8delinsCCCCATGCGGCT
ENST00000600227.5:c.-4_8delinsCCCCATGCGGCT
ENST00000600629.5:c.-4_8delinsCCCCATGCGGCT
ENST00000600646.5:n.247+6782_247+6793delinsCCCCATGCGGCT
ENST00000600834.5:c.-4_8delinsCCCCATGCGGCT
ENST00000601299.5:c.-4_8delinsCCCCATGCGGCT
ENST00000602181.5:c.-4_8delinsCCCCATGCGGCT
ENST00000602250.5:c.-4_8delinsCCCCATGCGGCT
NM_001039885.2:c.-4_8delinsCCCCATGCGGCT
NM_024301.4:c.-4_8delinsCCCCATGCGGCT
XM_005259247.1:c.-4_8delinsCCCCATGCGGCT
XM_005259248.1:c.-4_8delinsCCCCATGCGGCT
XM_005259249.3:c.-4_8delinsCCCCATGCGGCT
XM_005259250.3:c.-4_8delinsCCCCATGCGGCT
XM_011527301.1:c.-4_8delinsCCCCATGCGGCT
XM_011527302.1:c.-4_8delinsCCCCATGCGGCT
XM_011527303.1:c.-4_8delinsCCCCATGCGGCT
XM_011527304.1:c.-4_8delinsCCCCATGCGGCT
XM_011527305.1:c.-4_8delinsCCCCATGCGGCT
XM_011527306.1:c.-4_8delinsCCCCATGCGGCT
XM_011527307.1:c.-4_8delinsCCCCATGCGGCT
XM_005259247.2:c.-4_8delinsCCCCATGCGGCT
XM_005259248.2:c.-4_8delinsCCCCATGCGGCT
XM_005259249.4:c.-4_8delinsCCCCATGCGGCT
XM_011527306.2:c.-4_8delinsCCCCATGCGGCT
XM_017027297.2:c.-4_8delinsCCCCATGCGGCT
XM_024451707.1:c.-4_8delinsCCCCATGCGGCT
NM_001039885.3:c.-4_8delinsCCCCATGCGGCT
NM_024301.5:c.-4_8delinsCCCCATGCGGCT