Canonical Allele Identifier: CA2576826106

Gene: FKRP

Linked Data

• ClinVar Variation Id: 1934796
• ClinVar RCV Id: RCV002638812 ; RCV003464575
• gnomAD v4: 19-46756161-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46756162_46756163del , CM000681.2:g.46756162_46756163del	GRCh38
NC_000019.9:g.47259419_47259420del , CM000681.1:g.47259419_47259420del	GRCh37
NC_000019.8:g.51951259_51951260del	NCBI36
NG_008898.2:g.15117_15118del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318584.10:c.712_713del MANE Select	ENSP00000326570.4:p.Leu238AspfsTer20
ENST00000318584.9:c.712_713del	ENSP00000326570.4:p.Leu238AspfsTer20
ENST00000391909.7:c.712_713del	ENSP00000375776.2:p.Leu238AspfsTer20
ENST00000597339.5:n.247-5671_247-5670del
ENST00000600646.5:n.247+7497_247+7498del
NM_001039885.2:c.712_713del	NP_001034974.1:p.Leu238AspfsTer20
NM_024301.4:c.712_713del	NP_077277.1:p.Leu238AspfsTer20
XM_005259247.1:c.712_713del	XP_005259304.1:p.Leu238AspfsTer20
XM_005259248.1:c.712_713del	XP_005259305.1:p.Leu238AspfsTer20
XM_005259249.3:c.712_713del	XP_005259306.1:p.Leu238AspfsTer20
XM_005259250.3:c.712_713del	XP_005259307.1:p.Leu238AspfsTer20
XM_011527301.1:c.712_713del	XP_011525603.1:p.Leu238AspfsTer20
XM_011527302.1:c.712_713del	XP_011525604.1:p.Leu238AspfsTer20
XM_011527303.1:c.712_713del	XP_011525605.1:p.Leu238AspfsTer20
XM_011527304.1:c.712_713del	XP_011525606.1:p.Leu238AspfsTer20
XM_011527305.1:c.712_713del	XP_011525607.1:p.Leu238AspfsTer20
XM_011527306.1:c.712_713del	XP_011525608.1:p.Leu238AspfsTer20
XM_011527307.1:c.712_713del	XP_011525609.1:p.Leu238AspfsTer20
XM_005259247.2:c.712_713del	XP_005259304.1:p.Leu238AspfsTer20
XM_005259248.2:c.712_713del	XP_005259305.1:p.Leu238AspfsTer20
XM_005259249.4:c.712_713del	XP_005259306.1:p.Leu238AspfsTer20
XM_011527306.2:c.712_713del	XP_011525608.1:p.Leu238AspfsTer20
XM_017027297.2:c.712_713del	XP_016882786.1:p.Leu238AspfsTer20
XM_024451707.1:c.712_713del	XP_024307475.1:p.Leu238AspfsTer20
NM_001039885.3:c.712_713del	NP_001034974.1:p.Leu238AspfsTer20
NM_024301.5:c.712_713del MANE Select	NP_077277.1:p.Leu238AspfsTer20