Canonical Allele Identifier: CA2585987464
Gene: FKRP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.46755815_46755820del , CM000681.2:g.46755815_46755820del GRCh38
NC_000019.9:g.47259072_47259077del , CM000681.1:g.47259072_47259077del GRCh37
NC_000019.8:g.51950912_51950917del NCBI36
NG_008898.2:g.14770_14775del

Transcript Alleles

HGVS Amino-acid Change
ENST00000318584.10:c.365_370del MANE Select ENSP00000326570.4:p.Ala122_Thr123del
ENST00000318584.9:c.365_370del ENSP00000326570.4:p.Ala122_Thr123del
ENST00000391909.7:c.365_370del ENSP00000375776.2:p.Ala122_Thr123del
ENST00000593902.1:c.365_370del ENSP00000470901.1:p.Ala122_Thr123del
ENST00000594467.5:c.-65_-60del ENSP00000471971.1:n.-65_-60del
ENST00000597339.5:n.247-6018_247-6013del
ENST00000600646.5:n.247+7150_247+7155del
ENST00000601299.5:c.365_370del ENSP00000470103.1:p.Ala122_Thr123del
NM_001039885.2:c.365_370del NP_001034974.1:p.Ala122_Thr123del
NM_024301.4:c.365_370del NP_077277.1:p.Ala122_Thr123del
XM_005259247.1:c.365_370del XP_005259304.1:p.Ala122_Thr123del
XM_005259248.1:c.365_370del XP_005259305.1:p.Ala122_Thr123del
XM_005259249.3:c.365_370del XP_005259306.1:p.Ala122_Thr123del
XM_005259250.3:c.365_370del XP_005259307.1:p.Ala122_Thr123del
XM_011527301.1:c.365_370del XP_011525603.1:p.Ala122_Thr123del
XM_011527302.1:c.365_370del XP_011525604.1:p.Ala122_Thr123del
XM_011527303.1:c.365_370del XP_011525605.1:p.Ala122_Thr123del
XM_011527304.1:c.365_370del XP_011525606.1:p.Ala122_Thr123del
XM_011527305.1:c.365_370del XP_011525607.1:p.Ala122_Thr123del
XM_011527306.1:c.365_370del XP_011525608.1:p.Ala122_Thr123del
XM_011527307.1:c.365_370del XP_011525609.1:p.Ala122_Thr123del
XM_005259247.2:c.365_370del XP_005259304.1:p.Ala122_Thr123del
XM_005259248.2:c.365_370del XP_005259305.1:p.Ala122_Thr123del
XM_005259249.4:c.365_370del XP_005259306.1:p.Ala122_Thr123del
XM_011527306.2:c.365_370del XP_011525608.1:p.Ala122_Thr123del
XM_017027297.2:c.365_370del XP_016882786.1:p.Ala122_Thr123del
XM_024451707.1:c.365_370del XP_024307475.1:p.Ala122_Thr123del
NM_001039885.3:c.365_370del NP_001034974.1:p.Ala122_Thr123del
NM_024301.5:c.365_370del MANE Select NP_077277.1:p.Ala122_Thr123del