Canonical Allele Identifier: CA2339067865

Gene: FKRP

Linked Data

• ClinVar Variation Id: 1919943
• ClinVar RCV Id: RCV002590910
• dbSNP Id: rs2054941287

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46756894del , CM000681.2:g.46756894del	GRCh38
NC_000019.9:g.47260151del , CM000681.1:g.47260151del	GRCh37
NC_000019.8:g.51951991del	NCBI36
NG_008898.2:g.15849del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318584.10:c.1444del MANE Select	ENSP00000326570.4:p.Gln482SerfsTer8
ENST00000318584.9:c.1444del	ENSP00000326570.4:p.Gln482SerfsTer8
ENST00000391909.7:c.1444del	ENSP00000375776.2:p.Gln482SerfsTer8
ENST00000597339.5:n.247-4939del
ENST00000600646.5:n.247+8229del
NM_001039885.2:c.1444del	NP_001034974.1:p.Gln482SerfsTer8
NM_024301.4:c.1444del	NP_077277.1:p.Gln482SerfsTer8
XM_005259247.1:c.1444del	XP_005259304.1:p.Gln482SerfsTer8
XM_005259248.1:c.1444del	XP_005259305.1:p.Gln482SerfsTer8
XM_005259249.3:c.1444del	XP_005259306.1:p.Gln482SerfsTer8
XM_005259250.3:c.1444del	XP_005259307.1:p.Gln482SerfsTer8
XM_011527301.1:c.1444del	XP_011525603.1:p.Gln482SerfsTer8
XM_011527302.1:c.1444del	XP_011525604.1:p.Gln482SerfsTer8
XM_011527303.1:c.1444del	XP_011525605.1:p.Gln482SerfsTer8
XM_011527304.1:c.1444del	XP_011525606.1:p.Gln482SerfsTer8
XM_011527305.1:c.1444del	XP_011525607.1:p.Gln482SerfsTer8
XM_011527306.1:c.1444del	XP_011525608.1:p.Gln482SerfsTer8
XM_011527307.1:c.1444del	XP_011525609.1:p.Gln482SerfsTer8
XM_005259247.2:c.1444del	XP_005259304.1:p.Gln482SerfsTer8
XM_005259248.2:c.1444del	XP_005259305.1:p.Gln482SerfsTer8
XM_005259249.4:c.1444del	XP_005259306.1:p.Gln482SerfsTer8
XM_011527306.2:c.1444del	XP_011525608.1:p.Gln482SerfsTer8
XM_017027297.2:c.1444del	XP_016882786.1:p.Gln482SerfsTer8
XM_024451707.1:c.1444del	XP_024307475.1:p.Gln482SerfsTer8
NM_001039885.3:c.1444del	NP_001034974.1:p.Gln482SerfsTer8
NM_024301.5:c.1444del MANE Select	NP_077277.1:p.Gln482SerfsTer8