Linked Data
ClinVar Variation Id:
1685042
ClinVar RCV Id:
RCV002248134
dbSNP Id:
rs746909168
ExAC:
20:5294890 G / GTCCTCA
gnomAD v2:
20-5294890-G-GTCCTCA
gnomAD v3:
20-5314244-G-GTCCTCA
gnomAD v4:
20-5314244-G-GTCCTCA
MyVariant Identifiers:
chr20:g.5294890_5294891insTCCTCA (hg19)
chr20:g.5314244_5314245insTCCTCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.5314254_5314259dup , CM000682.2:g.5314254_5314259dup | GRCh38 |
| NC_000020.10:g.5294900_5294905dup , CM000682.1:g.5294900_5294905dup | GRCh37 |
| NC_000020.9:g.5242900_5242905dup | NCBI36 |
| NG_008132.1:g.5120_5125dup | |
| NG_008132.2:g.5120_5125dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217270.4:c.120_125dup | ENSP00000217270.3:p.Asp42_Met43insGluAsp | |
| ENST00000678059.1:c.12_17dup | ENSP00000503366.1:p.Asp6_Met7insGluAsp | |
| ENST00000678254.1:c.120_125dup MANE Select | ENSP00000504128.1:p.Asp42_Met43insGluAsp | |
| ENST00000217270.3:c.120_125dup | ENSP00000217270.3:p.Asp42_Met43insGluAsp | |
| NM_144773.2:c.120_125dup | NP_658986.1:p.Asp42_Met43insGluAsp | |
| XM_005260663.2:c.120_125dup | XP_005260720.1:p.Asp42_Met43insGluAsp | |
| XM_011529159.1:c.12_17dup | XP_011527461.1:p.Asp6_Met7insGluAsp | |
| NM_144773.3:c.120_125dup | NP_658986.1:p.Asp42_Met43insGluAsp | |
| XM_017027646.1:c.120_125dup | XP_016883135.1:p.Asp42_Met43insGluAsp | |
| NM_144773.4:c.120_125dup MANE Select | NP_658986.1:p.Asp42_Met43insGluAsp |