Canonical Allele Identifier: CA2339067154

Gene: FKRP

Linked Data

• ClinVar Variation Id: 1047789
• ClinVar RCV Id: RCV001352553 ; RCV001831183
• dbSNP Id: rs2054894857
• gnomAD v3: 19-46755684-CGTG-C
• gnomAD v4: 19-46755684-CGTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46755692_46755694del , CM000681.2:g.46755692_46755694del	GRCh38
NC_000019.9:g.47258949_47258951del , CM000681.1:g.47258949_47258951del	GRCh37
NC_000019.8:g.51950789_51950791del	NCBI36
NG_008898.2:g.14647_14649del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318584.10:c.242_244del MANE Select	ENSP00000326570.4:p.Val81del
ENST00000318584.9:c.242_244del	ENSP00000326570.4:p.Val81del
ENST00000391909.7:c.242_244del	ENSP00000375776.2:p.Val81del
ENST00000593800.5:c.242_244del	ENSP00000471209.1:p.Val81del
ENST00000593875.5:c.242_244del	ENSP00000470297.1:p.Val81del
ENST00000593902.1:c.242_244del	ENSP00000470901.1:p.Val81del
ENST00000594467.5:c.-188_-186del	ENSP00000471971.1:n.-188_-186del
ENST00000596974.5:n.468_470del
ENST00000597339.5:n.247-6141_247-6139del
ENST00000600005.5:c.242_244del	ENSP00000470335.1:p.Val81del
ENST00000600227.5:c.242_244del	ENSP00000468825.1:p.Val81del
ENST00000600646.5:n.247+7027_247+7029del
ENST00000601299.5:c.242_244del	ENSP00000470103.1:p.Val81del
ENST00000602181.5:c.242_244del	ENSP00000472981.1:p.Val81del
NM_001039885.2:c.242_244del	NP_001034974.1:p.Val81del
NM_024301.4:c.242_244del	NP_077277.1:p.Val81del
XM_005259247.1:c.242_244del	XP_005259304.1:p.Val81del
XM_005259248.1:c.242_244del	XP_005259305.1:p.Val81del
XM_005259249.3:c.242_244del	XP_005259306.1:p.Val81del
XM_005259250.3:c.242_244del	XP_005259307.1:p.Val81del
XM_011527301.1:c.242_244del	XP_011525603.1:p.Val81del
XM_011527302.1:c.242_244del	XP_011525604.1:p.Val81del
XM_011527303.1:c.242_244del	XP_011525605.1:p.Val81del
XM_011527304.1:c.242_244del	XP_011525606.1:p.Val81del
XM_011527305.1:c.242_244del	XP_011525607.1:p.Val81del
XM_011527306.1:c.242_244del	XP_011525608.1:p.Val81del
XM_011527307.1:c.242_244del	XP_011525609.1:p.Val81del
XM_005259247.2:c.242_244del	XP_005259304.1:p.Val81del
XM_005259248.2:c.242_244del	XP_005259305.1:p.Val81del
XM_005259249.4:c.242_244del	XP_005259306.1:p.Val81del
XM_011527306.2:c.242_244del	XP_011525608.1:p.Val81del
XM_017027297.2:c.242_244del	XP_016882786.1:p.Val81del
XM_024451707.1:c.242_244del	XP_024307475.1:p.Val81del
NM_001039885.3:c.242_244del	NP_001034974.1:p.Val81del
NM_024301.5:c.242_244del MANE Select	NP_077277.1:p.Val81del