Linked Data
ClinVar Variation Id:
372240
dbSNP Id:
rs1057518749
MyVariant Identifiers:
chr5:g.110097107_110097110dupTTAC (hg19)
chr5:g.110761407_110761410dupTTAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.110761407_110761410dup , CM000667.2:g.110761407_110761410dup | GRCh38 |
| NC_000005.9:g.110097107_110097110dup , CM000667.1:g.110097107_110097110dup | GRCh37 |
| NC_000005.8:g.110125006_110125009dup | NCBI36 |
| NG_051334.1:g.28272_28275dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355943.8:c.882_885dup MANE Select | ENSP00000348211.3:p.Asn296LeufsTer3 | |
| ENST00000355943.7:c.882_885dup | ENSP00000348211.3:p.Asn296LeufsTer3 | |
| ENST00000447245.6:c.679-40_679-37dup | ENSP00000399717.2:n.679-40_679-37dup | |
| ENST00000502462.6:n.1198_1201dup | ||
| ENST00000504098.1:c.444_447dup | ENSP00000425708.1:p.Asn150LeufsTer3 | |
| ENST00000509432.1:c.243_246dup | ENSP00000426604.1:p.Asn83LeufsTer3 | |
| ENST00000513706.2:n.2482_2485dup | ||
| ENST00000513807.5:c.396_399dup | ENSP00000421134.1:p.Asn134LeufsTer3 | |
| NM_001303249.1:c.679-40_679-37dup | NP_001290178.1:n.679-40_679-37dup | |
| NM_001303250.1:c.609_612dup | NP_001290179.1:p.Asn205LeufsTer3 | |
| NM_138773.2:c.882_885dup | NP_620128.1:p.Asn296LeufsTer3 | |
| NM_001303249.2:c.679-40_679-37dup | NP_001290178.1:n.679-40_679-37dup | |
| NM_001303250.2:c.609_612dup | NP_001290179.1:p.Asn205LeufsTer3 | |
| NM_138773.3:c.882_885dup | NP_620128.1:p.Asn296LeufsTer3 | |
| NR_138151.1:n.1156_1159dup | ||
| NM_138773.4:c.882_885dup MANE Select | NP_620128.1:p.Asn296LeufsTer3 | |
| NM_001303249.3:c.679-40_679-37dup | NP_001290178.1:n.679-40_679-37dup | |
| NM_001303250.3:c.609_612dup | NP_001290179.1:p.Asn205LeufsTer3 | |
| NR_138151.2:n.1121_1124dup |