Canonical Allele Identifier: CA10606597
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 289919
ClinVar RCV Id: RCV000394003
dbSNP Id: rs886044307

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.46756412_46756420dup , CM000681.2:g.46756412_46756420dup GRCh38
NC_000019.9:g.47259669_47259677dup , CM000681.1:g.47259669_47259677dup GRCh37
NC_000019.8:g.51951509_51951517dup NCBI36
NG_008898.2:g.15367_15375dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000318584.10:c.962_970dup MANE Select ENSP00000326570.4:p.Arg323_Glu324insAlaLeuArg
ENST00000318584.9:c.962_970dup ENSP00000326570.4:p.Arg323_Glu324insAlaLeuArg
ENST00000391909.7:c.962_970dup ENSP00000375776.2:p.Arg323_Glu324insAlaLeuArg
ENST00000597339.5:n.247-5421_247-5413dup
ENST00000600646.5:n.247+7747_247+7755dup
NM_001039885.2:c.962_970dup NP_001034974.1:p.Arg323_Glu324insAlaLeuArg
NM_024301.4:c.962_970dup NP_077277.1:p.Arg323_Glu324insAlaLeuArg
XM_005259247.1:c.962_970dup XP_005259304.1:p.Arg323_Glu324insAlaLeuArg
XM_005259248.1:c.962_970dup XP_005259305.1:p.Arg323_Glu324insAlaLeuArg
XM_005259249.3:c.962_970dup XP_005259306.1:p.Arg323_Glu324insAlaLeuArg
XM_005259250.3:c.962_970dup XP_005259307.1:p.Arg323_Glu324insAlaLeuArg
XM_011527301.1:c.962_970dup XP_011525603.1:p.Arg323_Glu324insAlaLeuArg
XM_011527302.1:c.962_970dup XP_011525604.1:p.Arg323_Glu324insAlaLeuArg
XM_011527303.1:c.962_970dup XP_011525605.1:p.Arg323_Glu324insAlaLeuArg
XM_011527304.1:c.962_970dup XP_011525606.1:p.Arg323_Glu324insAlaLeuArg
XM_011527305.1:c.962_970dup XP_011525607.1:p.Arg323_Glu324insAlaLeuArg
XM_011527306.1:c.962_970dup XP_011525608.1:p.Arg323_Glu324insAlaLeuArg
XM_011527307.1:c.962_970dup XP_011525609.1:p.Arg323_Glu324insAlaLeuArg
XM_005259247.2:c.962_970dup XP_005259304.1:p.Arg323_Glu324insAlaLeuArg
XM_005259248.2:c.962_970dup XP_005259305.1:p.Arg323_Glu324insAlaLeuArg
XM_005259249.4:c.962_970dup XP_005259306.1:p.Arg323_Glu324insAlaLeuArg
XM_011527306.2:c.962_970dup XP_011525608.1:p.Arg323_Glu324insAlaLeuArg
XM_017027297.2:c.962_970dup XP_016882786.1:p.Arg323_Glu324insAlaLeuArg
XM_024451707.1:c.962_970dup XP_024307475.1:p.Arg323_Glu324insAlaLeuArg
NM_001039885.3:c.962_970dup NP_001034974.1:p.Arg323_Glu324insAlaLeuArg
NM_024301.5:c.962_970dup MANE Select NP_077277.1:p.Arg323_Glu324insAlaLeuArg