Canonical Allele Identifier: CA16618106
Gene: MEGF10 HGNC NCBI

Linked Data

ClinVar Variation Id: 422705
ClinVar RCV Id: RCV000480679
dbSNP Id: rs1064795948
MyVariant Identifiers: chr5:g.126778734del (hg19) chr5:g.127443042del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.127443042del , CM000667.2:g.127443042del GRCh38
NC_000005.9:g.126778734del , CM000667.1:g.126778734del GRCh37
NC_000005.8:g.126806633del NCBI36
NG_032072.1:g.157279del
NG_032072.2:g.157279del

Transcript Alleles

HGVS Amino-acid change
ENST00000503335.7:c.2407del MANE Select ENSP00000423354.2:p.Asp803IlefsTer3
ENST00000274473.6:c.2407del ENSP00000274473.6:p.Asp803IlefsTer3
ENST00000503335.6:c.2407del ENSP00000423354.2:p.Asp803IlefsTer3
NM_001256545.1:c.2407del NP_001243474.1:p.Asp803IlefsTer3
NM_032446.2:c.2407del NP_115822.1:p.Asp803IlefsTer3
XM_011543692.1:c.2407del XP_011541994.1:p.Asp803IlefsTer3
XM_011543693.1:c.2407del XP_011541995.1:p.Asp803IlefsTer3
XM_011543694.1:c.2407del XP_011541996.1:p.Asp803IlefsTer3
XM_017009987.1:c.2572del XP_016865476.1:p.Asp858IlefsTer3
XM_017009988.1:c.1267del XP_016865477.1:p.Asp423IlefsTer3
NM_001256545.2:c.2407del MANE Select NP_001243474.1:p.Asp803IlefsTer3
NM_032446.3:c.2407del NP_115822.1:p.Asp803IlefsTer3
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