Linked Data
ClinVar Variation Id:
469717
ClinVar RCV Id:
RCV003743779
dbSNP Id:
rs1554082091
COSMIC:
COSM1180983
MyVariant Identifiers:
chr5:g.112164569del (hg19)
chr5:g.112164566del (hg19)
chr5:g.112828872del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112828872del , CM000667.2:g.112828872del | GRCh38 |
| NC_000005.9:g.112164569del , CM000667.1:g.112164569del | GRCh37 |
| NC_000005.8:g.112192468del | NCBI36 |
| NG_008481.4:g.141352del , LRG_130:g.141352del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000502371.3:c.1409-6079del | ENSP00000484935.2:n.1409-6079del | |
| ENST00000504915.3:c.1697del | ENSP00000473355.2:p.Leu566Ter | |
| ENST00000505084.2:n.1699del | ||
| ENST00000505350.2:c.*1649del | ENSP00000481752.1:n.*1649del | |
| ENST00000507379.6:c.1589del | ENSP00000423224.2:p.Leu530Ter | |
| ENST00000509732.6:c.1643del | ENSP00000426541.2:p.Leu548Ter | |
| ENST00000512211.7:c.1643del | ENSP00000423828.3:p.Leu548Ter | |
| ENST00000257430.9:c.1643del MANE Select | ENSP00000257430.4:p.Leu548Ter | |
| ENST00000257430.8:c.1643del | ENSP00000257430.4:p.Leu548Ter | |
| ENST00000502371.2:c.97-6079del | ||
| ENST00000504915.2:c.332del | ENSP00000473355.1:p.Leu111Ter | |
| ENST00000505084.1:n.130del | ||
| ENST00000507379.5:c.1589del | ENSP00000423224.1:p.Leu530Ter | |
| ENST00000508376.6:c.1643del | ENSP00000427089.2:p.Leu548Ter | |
| ENST00000508624.5:c.*965del | ENSP00000424265.1:n.*965del | |
| ENST00000512211.6:c.1643del | ENSP00000423828.2:p.Leu548Ter | |
| ENST00000520401.1:c.130del | ||
| NM_000038.5:c.1643del | NP_000029.2:p.Leu548Ter | |
| NM_001127510.2:c.1643del | NP_001120982.1:p.Leu548Ter | |
| NM_001127511.2:c.1589del | NP_001120983.2:p.Leu530Ter | |
| NM_001354895.1:c.1643del | NP_001341824.1:p.Leu548Ter | |
| NM_001354896.1:c.1697del | NP_001341825.1:p.Leu566Ter | |
| NM_001354897.1:c.1673del | NP_001341826.1:p.Leu558Ter | |
| NM_001354898.1:c.1568del | NP_001341827.1:p.Leu523Ter | |
| NM_001354899.1:c.1559del | NP_001341828.1:p.Leu520Ter | |
| NM_001354900.1:c.1520del | NP_001341829.1:p.Leu507Ter | |
| NM_001354901.1:c.1466del | NP_001341830.1:p.Leu489Ter | |
| NM_001354902.1:c.1370del | NP_001341831.1:p.Leu457Ter | |
| NM_001354903.1:c.1340del | NP_001341832.1:p.Leu447Ter | |
| NM_001354904.1:c.1265del | NP_001341833.1:p.Leu422Ter | |
| NM_001354905.1:c.1163del | NP_001341834.1:p.Leu388Ter | |
| NM_001354906.1:c.794del | NP_001341835.1:p.Leu265Ter | |
| NM_000038.6:c.1643del MANE Select | NP_000029.2:p.Leu548Ter | |
| NM_001127510.3:c.1643del | NP_001120982.1:p.Leu548Ter | |
| NM_001127511.3:c.1589del | NP_001120983.2:p.Leu530Ter | |
| NM_001354895.2:c.1643del | NP_001341824.1:p.Leu548Ter | |
| NM_001354896.2:c.1697del | NP_001341825.1:p.Leu566Ter | |
| NM_001354897.2:c.1673del | NP_001341826.1:p.Leu558Ter | |
| NM_001354898.2:c.1568del | NP_001341827.1:p.Leu523Ter | |
| NM_001354899.2:c.1559del | NP_001341828.1:p.Leu520Ter | |
| NM_001354900.2:c.1520del | NP_001341829.1:p.Leu507Ter | |
| NM_001354901.2:c.1466del | NP_001341830.1:p.Leu489Ter | |
| NM_001354902.2:c.1370del | NP_001341831.1:p.Leu457Ter | |
| NM_001354903.2:c.1340del | NP_001341832.1:p.Leu447Ter | |
| NM_001354904.2:c.1265del | NP_001341833.1:p.Leu422Ter | |
| NM_001354905.2:c.1163del | NP_001341834.1:p.Leu388Ter | |
| NM_001354906.2:c.794del | NP_001341835.1:p.Leu265Ter |