Linked Data
ClinVar Variation Id:
217937
dbSNP Id:
rs863225319
MyVariant Identifiers:
chr5:g.112170796_112170808delinsAAT (hg19)
chr5:g.112835099_112835111delinsAAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112835099_112835111delinsAAT , CM000667.2:g.112835099_112835111delinsAAT | GRCh38 |
| NC_000005.9:g.112170796_112170808delinsAAT , CM000667.1:g.112170796_112170808delinsAAT | GRCh37 |
| NC_000005.8:g.112198695_112198707delinsAAT | NCBI36 |
| NG_008481.4:g.147579_147591delinsAAT , LRG_130:g.147579_147591delinsAAT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000502371.3:c.1557_1569delinsAAT | ENSP00000484935.2:n.1557_1569delinsAAT | |
| ENST00000504915.3:c.1946_1958delinsAAT | ENSP00000473355.2:p.Ile649LysfsTer2 | |
| ENST00000505350.2:c.*1898_*1910delinsAAT | ENSP00000481752.1:n.*1898_*1910delinsAAT | |
| ENST00000507379.6:c.1838_1850delinsAAT | ENSP00000423224.2:p.Ile613LysfsTer2 | |
| ENST00000509732.6:c.1892_1904delinsAAT | ENSP00000426541.2:p.Ile631LysfsTer2 | |
| ENST00000512211.7:c.1892_1904delinsAAT | ENSP00000423828.3:p.Ile631LysfsTer2 | |
| ENST00000257430.9:c.1892_1904delinsAAT MANE Select | ENSP00000257430.4:p.Ile631LysfsTer2 | |
| ENST00000257430.8:c.1892_1904delinsAAT | ENSP00000257430.4:p.Ile631LysfsTer2 | |
| ENST00000502371.2:c.245_257delinsAAT | ||
| ENST00000504915.2:c.581_593delinsAAT | ENSP00000473355.1:p.Ile194LysfsTer2 | |
| ENST00000507379.5:c.1838_1850delinsAAT | ENSP00000423224.1:p.Ile613LysfsTer2 | |
| ENST00000508376.6:c.1892_1904delinsAAT | ENSP00000427089.2:p.Ile631LysfsTer2 | |
| ENST00000508624.5:c.*1214_*1226delinsAAT | ENSP00000424265.1:n.*1214_*1226delinsAAT | |
| ENST00000512211.6:c.1892_1904delinsAAT | ENSP00000423828.2:p.Ile631LysfsTer2 | |
| ENST00000520401.1:c.230+6127_230+6139delinsAAT | ||
| NM_000038.5:c.1892_1904delinsAAT | NP_000029.2:p.Ile631LysfsTer2 | |
| NM_001127510.2:c.1892_1904delinsAAT | NP_001120982.1:p.Ile631LysfsTer2 | |
| NM_001127511.2:c.1838_1850delinsAAT | NP_001120983.2:p.Ile613LysfsTer2 | |
| NM_001354895.1:c.1892_1904delinsAAT | NP_001341824.1:p.Ile631LysfsTer2 | |
| NM_001354896.1:c.1946_1958delinsAAT | NP_001341825.1:p.Ile649LysfsTer2 | |
| NM_001354897.1:c.1922_1934delinsAAT | NP_001341826.1:p.Ile641LysfsTer2 | |
| NM_001354898.1:c.1817_1829delinsAAT | NP_001341827.1:p.Ile606LysfsTer2 | |
| NM_001354899.1:c.1808_1820delinsAAT | NP_001341828.1:p.Ile603LysfsTer2 | |
| NM_001354900.1:c.1769_1781delinsAAT | NP_001341829.1:p.Ile590LysfsTer2 | |
| NM_001354901.1:c.1715_1727delinsAAT | NP_001341830.1:p.Ile572LysfsTer2 | |
| NM_001354902.1:c.1619_1631delinsAAT | NP_001341831.1:p.Ile540LysfsTer2 | |
| NM_001354903.1:c.1589_1601delinsAAT | NP_001341832.1:p.Ile530LysfsTer2 | |
| NM_001354904.1:c.1514_1526delinsAAT | NP_001341833.1:p.Ile505LysfsTer2 | |
| NM_001354905.1:c.1412_1424delinsAAT | NP_001341834.1:p.Ile471LysfsTer2 | |
| NM_001354906.1:c.1043_1055delinsAAT | NP_001341835.1:p.Ile348LysfsTer2 | |
| NM_000038.6:c.1892_1904delinsAAT MANE Select | NP_000029.2:p.Ile631LysfsTer2 | |
| NM_001127510.3:c.1892_1904delinsAAT | NP_001120982.1:p.Ile631LysfsTer2 | |
| NM_001127511.3:c.1838_1850delinsAAT | NP_001120983.2:p.Ile613LysfsTer2 | |
| NM_001354895.2:c.1892_1904delinsAAT | NP_001341824.1:p.Ile631LysfsTer2 | |
| NM_001354896.2:c.1946_1958delinsAAT | NP_001341825.1:p.Ile649LysfsTer2 | |
| NM_001354897.2:c.1922_1934delinsAAT | NP_001341826.1:p.Ile641LysfsTer2 | |
| NM_001354898.2:c.1817_1829delinsAAT | NP_001341827.1:p.Ile606LysfsTer2 | |
| NM_001354899.2:c.1808_1820delinsAAT | NP_001341828.1:p.Ile603LysfsTer2 | |
| NM_001354900.2:c.1769_1781delinsAAT | NP_001341829.1:p.Ile590LysfsTer2 | |
| NM_001354901.2:c.1715_1727delinsAAT | NP_001341830.1:p.Ile572LysfsTer2 | |
| NM_001354902.2:c.1619_1631delinsAAT | NP_001341831.1:p.Ile540LysfsTer2 | |
| NM_001354903.2:c.1589_1601delinsAAT | NP_001341832.1:p.Ile530LysfsTer2 | |
| NM_001354904.2:c.1514_1526delinsAAT | NP_001341833.1:p.Ile505LysfsTer2 | |
| NM_001354905.2:c.1412_1424delinsAAT | NP_001341834.1:p.Ile471LysfsTer2 | |
| NM_001354906.2:c.1043_1055delinsAAT | NP_001341835.1:p.Ile348LysfsTer2 |