Canonical Allele Identifier: CA309099182
Gene: FKRP HGNC NCBI

Linked Data

dbSNP Id: rs878854376
MyVariant Identifiers: chr19:g.47258783_47258784del (hg19) chr19:g.46755526_46755527del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.46755526_46755527del , CM000681.2:g.46755526_46755527del GRCh38
NC_000019.9:g.47258783_47258784del , CM000681.1:g.47258783_47258784del GRCh37
NC_000019.8:g.51950623_51950624del NCBI36
NG_008898.2:g.14481_14482del

Transcript Alleles

HGVS Amino-acid change
ENST00000318584.10:c.76_77del MANE Select ENSP00000326570.4:p.Trp26AlafsTer6
ENST00000318584.9:c.76_77del ENSP00000326570.4:p.Trp26AlafsTer6
ENST00000391909.7:c.76_77del ENSP00000375776.2:p.Trp26AlafsTer6
ENST00000593800.5:c.76_77del ENSP00000471209.1:p.Trp26AlafsTer6
ENST00000593875.5:c.76_77del ENSP00000470297.1:p.Trp26AlafsTer6
ENST00000593902.1:c.76_77del ENSP00000470901.1:p.Trp26AlafsTer6
ENST00000594467.5:c.-345-9_-345-8del ENSP00000471971.1:n.-345-9_-345-8del
ENST00000595570.5:c.76_77del ENSP00000470929.1:p.Trp26AlafsTer6
ENST00000595868.5:c.76_77del ENSP00000471573.1:p.Trp26AlafsTer6
ENST00000596460.5:c.76_77del ENSP00000469373.1:p.Trp26AlafsTer6
ENST00000596974.5:n.311-9_311-8del
ENST00000597313.5:c.76_77del ENSP00000472370.1:p.Trp26AlafsTer6
ENST00000597339.5:n.247-6307_247-6306del
ENST00000598271.5:c.76_77del ENSP00000471088.1:p.Trp26AlafsTer?
ENST00000600005.5:c.76_77del ENSP00000470335.1:p.Trp26AlafsTer6
ENST00000600227.5:c.76_77del ENSP00000468825.1:p.Trp26AlafsTer6
ENST00000600629.5:c.76_77del ENSP00000470096.1:p.Trp26AlafsTer6
ENST00000600646.5:n.247+6861_247+6862del
ENST00000600834.5:c.76_77del ENSP00000470024.1:p.Trp26AlafsTer6
ENST00000601299.5:c.76_77del ENSP00000470103.1:p.Trp26AlafsTer6
ENST00000602181.5:c.76_77del ENSP00000472981.1:p.Trp26AlafsTer6
ENST00000602250.5:c.76_77del ENSP00000472807.1:p.Trp26AlafsTer6
NM_001039885.2:c.76_77del NP_001034974.1:p.Trp26AlafsTer6
NM_024301.4:c.76_77del NP_077277.1:p.Trp26AlafsTer6
XM_005259247.1:c.76_77del XP_005259304.1:p.Trp26AlafsTer6
XM_005259248.1:c.76_77del XP_005259305.1:p.Trp26AlafsTer6
XM_005259249.3:c.76_77del XP_005259306.1:p.Trp26AlafsTer6
XM_005259250.3:c.76_77del XP_005259307.1:p.Trp26AlafsTer6
XM_011527301.1:c.76_77del XP_011525603.1:p.Trp26AlafsTer6
XM_011527302.1:c.76_77del XP_011525604.1:p.Trp26AlafsTer6
XM_011527303.1:c.76_77del XP_011525605.1:p.Trp26AlafsTer6
XM_011527304.1:c.76_77del XP_011525606.1:p.Trp26AlafsTer6
XM_011527305.1:c.76_77del XP_011525607.1:p.Trp26AlafsTer6
XM_011527306.1:c.76_77del XP_011525608.1:p.Trp26AlafsTer6
XM_011527307.1:c.76_77del XP_011525609.1:p.Trp26AlafsTer6
XM_005259247.2:c.76_77del XP_005259304.1:p.Trp26AlafsTer6
XM_005259248.2:c.76_77del XP_005259305.1:p.Trp26AlafsTer6
XM_005259249.4:c.76_77del XP_005259306.1:p.Trp26AlafsTer6
XM_011527306.2:c.76_77del XP_011525608.1:p.Trp26AlafsTer6
XM_017027297.2:c.76_77del XP_016882786.1:p.Trp26AlafsTer6
XM_024451707.1:c.76_77del XP_024307475.1:p.Trp26AlafsTer6
NM_001039885.3:c.76_77del NP_001034974.1:p.Trp26AlafsTer6
NM_024301.5:c.76_77del MANE Select NP_077277.1:p.Trp26AlafsTer6
Search 100 bp 5'
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