Linked Data
ClinVar Variation Id:
140630
dbSNP Id:
rs730880330
gnomAD v2:
20-400315-C-CGACGAGG
gnomAD v3:
20-419671-C-CGACGAGG
gnomAD v4:
20-419671-C-CGACGAGG
MyVariant Identifiers:
chr20:g.400316_400322dupGACGAGG (hg19)
chr20:g.400315_400316insGACGAGG (hg19)
chr20:g.419672_419678dupGACGAGG (hg38)
PubMed:
PMID:23889995
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.419672_419678dup , CM000682.2:g.419672_419678dup | GRCh38 |
| NC_000020.10:g.400316_400322dup , CM000682.1:g.400316_400322dup | GRCh37 |
| NC_000020.9:g.348316_348322dup | NCBI36 |
| NG_033233.1:g.16608_16614dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697804.1:c.697_703dup | ENSP00000513444.1:p.Glu235GlyfsTer? | |
| ENST00000697805.1:c.748_754dup | ENSP00000513446.1:p.Glu252GlyfsTer? | |
| ENST00000356286.10:c.697_703dup MANE Select | ENSP00000348632.6:p.Glu235GlyfsTer? | |
| ENST00000640614.1:c.348_354dup | ENSP00000491402.1:p.Arg119AspfsTer? | |
| ENST00000353660.7:c.571_577dup | ENSP00000254960.5:p.Glu193GlyfsTer? | |
| ENST00000356286.9:c.697_703dup | ENSP00000348632.5:p.Glu235GlyfsTer? | |
| ENST00000382181.2:c.348_354dup | ENSP00000371616.2:p.Arg119AspfsTer? | |
| ENST00000382214.7:c.697_703dup | ENSP00000371649.3:p.Glu235GlyfsTer? | |
| ENST00000415942.5:c.697_703dup | ENSP00000405288.1:p.Glu235GlyfsTer? | |
| NM_006462.4:c.571_577dup | NP_006453.1:p.Glu193GlyfsTer? | |
| NM_031229.2:c.697_703dup | NP_112506.2:p.Glu235GlyfsTer? | |
| XM_005260645.1:c.748_754dup | XP_005260702.1:p.Glu252GlyfsTer? | |
| XM_011529137.1:c.871_877dup | XP_011527439.1:p.Glu293GlyfsTer? | |
| XM_011529138.1:c.820_826dup | XP_011527440.1:p.Glu276GlyfsTer? | |
| XM_011529139.1:c.871_877dup | XP_011527441.1:p.Glu293GlyfsTer? | |
| XM_011529140.1:c.871_877dup | XP_011527442.1:p.Glu293GlyfsTer? | |
| XR_430267.1:n.1156_1162dup | ||
| XR_937029.1:n.1324_1330dup | ||
| NM_001323956.1:c.348_354dup | NP_001310885.1:p.Arg119AspfsTer? | |
| NM_001323958.1:c.348_354dup | NP_001310887.1:p.Arg119AspfsTer? | |
| NM_006462.5:c.571_577dup | NP_006453.1:p.Glu193GlyfsTer? | |
| NM_031229.3:c.697_703dup | NP_112506.2:p.Glu235GlyfsTer? | |
| NR_136659.1:n.1405_1411dup | ||
| XM_005260645.2:c.748_754dup | XP_005260702.1:p.Glu252GlyfsTer? | |
| XM_011529137.2:c.871_877dup | XP_011527439.1:p.Glu293GlyfsTer? | |
| XM_011529139.3:c.871_877dup | XP_011527441.1:p.Glu293GlyfsTer? | |
| XM_011529140.2:c.871_877dup | XP_011527442.1:p.Glu293GlyfsTer? | |
| XM_017027594.2:c.348_354dup | XP_016883083.1:p.Arg119AspfsTer? | |
| XM_017027595.1:c.348_354dup | XP_016883084.1:p.Arg119AspfsTer? | |
| XR_001754130.2:n.1330_1336dup | ||
| XR_001754131.1:n.1156_1162dup | ||
| XR_937029.3:n.1330_1336dup | ||
| NM_001323958.2:c.348_354dup | NP_001310887.1:p.Arg119AspfsTer? | |
| NM_006462.6:c.571_577dup | NP_006453.1:p.Glu193GlyfsTer? | |
| NM_031229.4:c.697_703dup MANE Select | NP_112506.2:p.Glu235GlyfsTer? | |
| NR_136659.2:n.1156_1162dup | ||
| NM_001323956.2:c.348_354dup | NP_001310885.1:p.Arg119AspfsTer? |