Canonical Allele Identifier: CA2339067720

Gene: FKRP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46756616_46756618delinsAGC , CM000681.2:g.46756616_46756618delinsAGC	GRCh38
NC_000019.9:g.47259873_47259875delinsAGC , CM000681.1:g.47259873_47259875delinsAGC	GRCh37
NC_000019.8:g.51951713_51951715delinsAGC	NCBI36
NG_008898.2:g.15571_15573delinsAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318584.10:c.1166_1168delinsAGC MANE Select	ENSP00000326570.4:p.Glu389=
ENST00000318584.9:c.1166_1168delinsAGC	ENSP00000326570.4:p.Glu389=
ENST00000391909.7:c.1166_1168delinsAGC	ENSP00000375776.2:p.Glu389=
ENST00000597339.5:n.247-5217_247-5215delinsAGC
ENST00000600646.5:n.247+7951_247+7953delinsAGC
NM_001039885.2:c.1166_1168delinsAGC	NP_001034974.1:p.Glu389=
NM_024301.4:c.1166_1168delinsAGC	NP_077277.1:p.Glu389=
XM_005259247.1:c.1166_1168delinsAGC	XP_005259304.1:p.Glu389=
XM_005259248.1:c.1166_1168delinsAGC	XP_005259305.1:p.Glu389=
XM_005259249.3:c.1166_1168delinsAGC	XP_005259306.1:p.Glu389=
XM_005259250.3:c.1166_1168delinsAGC	XP_005259307.1:p.Glu389=
XM_011527301.1:c.1166_1168delinsAGC	XP_011525603.1:p.Glu389=
XM_011527302.1:c.1166_1168delinsAGC	XP_011525604.1:p.Glu389=
XM_011527303.1:c.1166_1168delinsAGC	XP_011525605.1:p.Glu389=
XM_011527304.1:c.1166_1168delinsAGC	XP_011525606.1:p.Glu389=
XM_011527305.1:c.1166_1168delinsAGC	XP_011525607.1:p.Glu389=
XM_011527306.1:c.1166_1168delinsAGC	XP_011525608.1:p.Glu389=
XM_011527307.1:c.1166_1168delinsAGC	XP_011525609.1:p.Glu389=
XM_005259247.2:c.1166_1168delinsAGC	XP_005259304.1:p.Glu389=
XM_005259248.2:c.1166_1168delinsAGC	XP_005259305.1:p.Glu389=
XM_005259249.4:c.1166_1168delinsAGC	XP_005259306.1:p.Glu389=
XM_011527306.2:c.1166_1168delinsAGC	XP_011525608.1:p.Glu389=
XM_017027297.2:c.1166_1168delinsAGC	XP_016882786.1:p.Glu389=
XM_024451707.1:c.1166_1168delinsAGC	XP_024307475.1:p.Glu389=
NM_001039885.3:c.1166_1168delinsAGC	NP_001034974.1:p.Glu389=
NM_024301.5:c.1166_1168delinsAGC MANE Select	NP_077277.1:p.Glu389=