Canonical Allele Identifier: CA10606163

Gene: FKRP

Linked Data

• ClinVar Variation Id: 288628
• ClinVar RCV Id: RCV000597008 ; RCV001859683
• dbSNP Id: rs886043959
• MyVariant Identifiers: chr19:g.47259963_47259964del (hg19) ; chr19:g.46756706_46756707del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46756706_46756707del , CM000681.2:g.46756706_46756707del	GRCh38
NC_000019.9:g.47259963_47259964del , CM000681.1:g.47259963_47259964del	GRCh37
NC_000019.8:g.51951803_51951804del	NCBI36
NG_008898.2:g.15661_15662del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318584.10:c.1256_1257del MANE Select	ENSP00000326570.4:p.Pro419LeufsTer?
ENST00000318584.9:c.1256_1257del	ENSP00000326570.4:p.Pro419LeufsTer?
ENST00000391909.7:c.1256_1257del	ENSP00000375776.2:p.Pro419LeufsTer?
ENST00000597339.5:n.247-5127_247-5126del
ENST00000600646.5:n.247+8041_247+8042del
NM_001039885.2:c.1256_1257del	NP_001034974.1:p.Pro419LeufsTer?
NM_024301.4:c.1256_1257del	NP_077277.1:p.Pro419LeufsTer?
XM_005259247.1:c.1256_1257del	XP_005259304.1:p.Pro419LeufsTer?
XM_005259248.1:c.1256_1257del	XP_005259305.1:p.Pro419LeufsTer?
XM_005259249.3:c.1256_1257del	XP_005259306.1:p.Pro419LeufsTer?
XM_005259250.3:c.1256_1257del	XP_005259307.1:p.Pro419LeufsTer?
XM_011527301.1:c.1256_1257del	XP_011525603.1:p.Pro419LeufsTer?
XM_011527302.1:c.1256_1257del	XP_011525604.1:p.Pro419LeufsTer?
XM_011527303.1:c.1256_1257del	XP_011525605.1:p.Pro419LeufsTer?
XM_011527304.1:c.1256_1257del	XP_011525606.1:p.Pro419LeufsTer?
XM_011527305.1:c.1256_1257del	XP_011525607.1:p.Pro419LeufsTer?
XM_011527306.1:c.1256_1257del	XP_011525608.1:p.Pro419LeufsTer?
XM_011527307.1:c.1256_1257del	XP_011525609.1:p.Pro419LeufsTer?
XM_005259247.2:c.1256_1257del	XP_005259304.1:p.Pro419LeufsTer?
XM_005259248.2:c.1256_1257del	XP_005259305.1:p.Pro419LeufsTer?
XM_005259249.4:c.1256_1257del	XP_005259306.1:p.Pro419LeufsTer?
XM_011527306.2:c.1256_1257del	XP_011525608.1:p.Pro419LeufsTer?
XM_017027297.2:c.1256_1257del	XP_016882786.1:p.Pro419LeufsTer?
XM_024451707.1:c.1256_1257del	XP_024307475.1:p.Pro419LeufsTer?
NM_001039885.3:c.1256_1257del	NP_001034974.1:p.Pro419LeufsTer?
NM_024301.5:c.1256_1257del MANE Select	NP_077277.1:p.Pro419LeufsTer?