Linked Data
ClinVar Variation Id:
411339
ClinVar RCV Id:
RCV002463448
dbSNP Id:
rs1060503259
COSMIC:
COSM1432181
MyVariant Identifiers:
chr5:g.112164668del (hg19)
chr5:g.112164664del (hg19)
chr5:g.112828971del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112828971del , CM000667.2:g.112828971del | GRCh38 |
| NC_000005.9:g.112164668del , CM000667.1:g.112164668del | GRCh37 |
| NC_000005.8:g.112192567del | NCBI36 |
| NG_008481.4:g.141451del , LRG_130:g.141451del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000502371.3:c.1409-5980del | ENSP00000484935.2:n.1409-5980del | |
| ENST00000504915.3:c.1796del | ENSP00000473355.2:p.Lys599ArgfsTer9 | |
| ENST00000505084.2:n.1798del | ||
| ENST00000505350.2:c.*1748del | ENSP00000481752.1:n.*1748del | |
| ENST00000507379.6:c.1688del | ENSP00000423224.2:p.Lys563ArgfsTer9 | |
| ENST00000509732.6:c.1742del | ENSP00000426541.2:p.Lys581ArgfsTer9 | |
| ENST00000512211.7:c.1742del | ENSP00000423828.3:p.Lys581ArgfsTer9 | |
| ENST00000257430.9:c.1742del MANE Select | ENSP00000257430.4:p.Lys581ArgfsTer9 | |
| ENST00000257430.8:c.1742del | ENSP00000257430.4:p.Lys581ArgfsTer9 | |
| ENST00000502371.2:c.97-5980del | ||
| ENST00000504915.2:c.431del | ENSP00000473355.1:p.Lys144ArgfsTer9 | |
| ENST00000505084.1:n.229del | ||
| ENST00000507379.5:c.1688del | ENSP00000423224.1:p.Lys563ArgfsTer9 | |
| ENST00000508376.6:c.1742del | ENSP00000427089.2:p.Lys581ArgfsTer9 | |
| ENST00000508624.5:c.*1064del | ENSP00000424265.1:n.*1064del | |
| ENST00000512211.6:c.1742del | ENSP00000423828.2:p.Lys581ArgfsTer9 | |
| ENST00000520401.1:c.229del | ||
| NM_000038.5:c.1742del | NP_000029.2:p.Lys581ArgfsTer9 | |
| NM_001127510.2:c.1742del | NP_001120982.1:p.Lys581ArgfsTer9 | |
| NM_001127511.2:c.1688del | NP_001120983.2:p.Lys563ArgfsTer9 | |
| NM_001354895.1:c.1742del | NP_001341824.1:p.Lys581ArgfsTer9 | |
| NM_001354896.1:c.1796del | NP_001341825.1:p.Lys599ArgfsTer9 | |
| NM_001354897.1:c.1772del | NP_001341826.1:p.Lys591ArgfsTer9 | |
| NM_001354898.1:c.1667del | NP_001341827.1:p.Lys556ArgfsTer9 | |
| NM_001354899.1:c.1658del | NP_001341828.1:p.Lys553ArgfsTer9 | |
| NM_001354900.1:c.1619del | NP_001341829.1:p.Lys540ArgfsTer9 | |
| NM_001354901.1:c.1565del | NP_001341830.1:p.Lys522ArgfsTer9 | |
| NM_001354902.1:c.1469del | NP_001341831.1:p.Lys490ArgfsTer9 | |
| NM_001354903.1:c.1439del | NP_001341832.1:p.Lys480ArgfsTer9 | |
| NM_001354904.1:c.1364del | NP_001341833.1:p.Lys455ArgfsTer9 | |
| NM_001354905.1:c.1262del | NP_001341834.1:p.Lys421ArgfsTer9 | |
| NM_001354906.1:c.893del | NP_001341835.1:p.Lys298ArgfsTer9 | |
| NM_000038.6:c.1742del MANE Select | NP_000029.2:p.Lys581ArgfsTer9 | |
| NM_001127510.3:c.1742del | NP_001120982.1:p.Lys581ArgfsTer9 | |
| NM_001127511.3:c.1688del | NP_001120983.2:p.Lys563ArgfsTer9 | |
| NM_001354895.2:c.1742del | NP_001341824.1:p.Lys581ArgfsTer9 | |
| NM_001354896.2:c.1796del | NP_001341825.1:p.Lys599ArgfsTer9 | |
| NM_001354897.2:c.1772del | NP_001341826.1:p.Lys591ArgfsTer9 | |
| NM_001354898.2:c.1667del | NP_001341827.1:p.Lys556ArgfsTer9 | |
| NM_001354899.2:c.1658del | NP_001341828.1:p.Lys553ArgfsTer9 | |
| NM_001354900.2:c.1619del | NP_001341829.1:p.Lys540ArgfsTer9 | |
| NM_001354901.2:c.1565del | NP_001341830.1:p.Lys522ArgfsTer9 | |
| NM_001354902.2:c.1469del | NP_001341831.1:p.Lys490ArgfsTer9 | |
| NM_001354903.2:c.1439del | NP_001341832.1:p.Lys480ArgfsTer9 | |
| NM_001354904.2:c.1364del | NP_001341833.1:p.Lys455ArgfsTer9 | |
| NM_001354905.2:c.1262del | NP_001341834.1:p.Lys421ArgfsTer9 | |
| NM_001354906.2:c.893del | NP_001341835.1:p.Lys298ArgfsTer9 |