Linked Data
ClinVar Variation Id:
68080
dbSNP Id:
rs180177371
ExAC:
8:100865995 CAG / C
gnomAD v2:
8-100865995-CAG-C
gnomAD v4:
8-99853767-CAG-C
MyVariant Identifiers:
chr8:g.100865998_100865999del (hg19)
chr8:g.100865996_100865997del (hg19)
chr8:g.99853770_99853771del (hg38)
chr8:g.99853768_99853769del (hg38)
PubMed:
PMID:16648375
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99853770_99853771del , CM000670.2:g.99853770_99853771del | GRCh38 |
| NC_000008.10:g.100865998_100865999del , CM000670.1:g.100865998_100865999del | GRCh37 |
| NC_000008.9:g.100935174_100935175del | NCBI36 |
| NG_007098.2:g.845505_845506del , LRG_351:g.845505_845506del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682153.1:c.10456_10457del | ENSP00000507923.1:p.Leu3487ProfsTer24 | |
| ENST00000682358.1:n.10526_10527del | ||
| ENST00000683334.1:c.*6138_*6139del | ENSP00000507369.1:n.*6138_*6139del | |
| ENST00000357162.7:c.10381_10382del MANE Select | ENSP00000349685.2:p.Leu3462ProfsTer24 | |
| ENST00000358544.7:c.10456_10457del MANE Plus Clinical | ENSP00000351346.2:p.Leu3487ProfsTer24 | |
| ENST00000357162.6:c.10381_10382del | ENSP00000349685.2:p.Leu3462ProfsTer24 | |
| ENST00000358544.6:c.10456_10457del | ENSP00000351346.2:p.Leu3487ProfsTer24 | |
| NM_017890.4:c.10456_10457del , LRG_351t1:c.10456_10457del | NP_060360.3:p.Leu3487ProfsTer24 | |
| NM_152564.4:c.10381_10382del , LRG_351t2:c.10381_10382del | NP_689777.3:p.Leu3462ProfsTer24 | |
| XM_005250800.2:c.10456_10457del | XP_005250857.1:p.Leu3487ProfsTer24 | |
| XM_005250801.3:c.10456_10457del | XP_005250858.1:p.Leu3487ProfsTer24 | |
| XM_011516848.1:c.10453_10454del | XP_011515150.1:p.Leu3486ProfsTer24 | |
| XM_011516849.1:c.10378_10379del | XP_011515151.1:p.Leu3461ProfsTer24 | |
| XM_011516850.1:c.10078_10079del | XP_011515152.1:p.Leu3361ProfsTer24 | |
| XM_011516851.1:c.7342_7343del | XP_011515153.1:p.Leu2449ProfsTer24 | |
| XM_011516852.1:c.7342_7343del | XP_011515154.1:p.Leu2449ProfsTer24 | |
| XM_011516854.1:c.6235_6236del | XP_011515156.1:p.Leu2080ProfsTer24 | |
| XM_005250800.3:c.10456_10457del | XP_005250857.1:p.Leu3487ProfsTer24 | |
| XM_005250801.5:c.10456_10457del | XP_005250858.1:p.Leu3487ProfsTer24 | |
| XM_011516848.2:c.10453_10454del | XP_011515150.1:p.Leu3486ProfsTer24 | |
| XM_011516849.2:c.10378_10379del | XP_011515151.1:p.Leu3461ProfsTer24 | |
| XM_011516850.2:c.10078_10079del | XP_011515152.1:p.Leu3361ProfsTer24 | |
| XM_011516851.2:c.7342_7343del | XP_011515153.1:p.Leu2449ProfsTer24 | |
| XM_011516852.2:c.7342_7343del | XP_011515154.1:p.Leu2449ProfsTer24 | |
| XM_011516854.2:c.6235_6236del | XP_011515156.1:p.Leu2080ProfsTer24 | |
| XM_017013109.1:c.10261_10262del | XP_016868598.1:p.Leu3422ProfsTer24 | |
| XM_017013111.1:c.7342_7343del | XP_016868600.1:p.Leu2449ProfsTer24 | |
| XM_017013112.1:c.6013_6014del | XP_016868601.1:p.Leu2006ProfsTer24 | |
| XM_024447074.1:c.9241_9242del | XP_024302842.1:p.Leu3082ProfsTer24 | |
| NM_017890.5:c.10456_10457del MANE Plus Clinical | NP_060360.3:p.Leu3487ProfsTer24 | |
| NM_152564.5:c.10381_10382del MANE Select | NP_689777.3:p.Leu3462ProfsTer24 |