Linked Data
ClinVar Variation Id:
236564
ClinVar RCV Id:
RCV000229977
dbSNP Id:
rs878853419
MyVariant Identifiers:
chr5:g.112170770_112170771delinsAT (hg19)
chr5:g.112835073_112835074delinsAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112835073_112835074delinsAT , CM000667.2:g.112835073_112835074delinsAT | GRCh38 |
| NC_000005.9:g.112170770_112170771delinsAT , CM000667.1:g.112170770_112170771delinsAT | GRCh37 |
| NC_000005.8:g.112198669_112198670delinsAT | NCBI36 |
| NG_008481.4:g.147553_147554delinsAT , LRG_130:g.147553_147554delinsAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.1531_1532delinsAT | ENSP00000484935.2:n.1531_1532delinsAT | |
| ENST00000504915.3:c.1920_1921delinsAT | ENSP00000473355.2:p.Tyr640Ter | |
| ENST00000505350.2:c.*1872_*1873delinsAT | ENSP00000481752.1:n.*1872_*1873delinsAT | |
| ENST00000507379.6:c.1812_1813delinsAT | ENSP00000423224.2:p.Tyr604Ter | |
| ENST00000509732.6:c.1866_1867delinsAT | ENSP00000426541.2:p.Tyr622Ter | |
| ENST00000512211.7:c.1866_1867delinsAT | ENSP00000423828.3:p.Tyr622Ter | |
| ENST00000257430.9:c.1866_1867delinsAT MANE Select | ENSP00000257430.4:p.Tyr622Ter | |
| ENST00000257430.8:c.1866_1867delinsAT | ENSP00000257430.4:p.Tyr622Ter | |
| ENST00000502371.2:c.219_220delinsAT | ||
| ENST00000504915.2:c.555_556delinsAT | ENSP00000473355.1:p.Tyr185Ter | |
| ENST00000507379.5:c.1812_1813delinsAT | ENSP00000423224.1:p.Tyr604Ter | |
| ENST00000508376.6:c.1866_1867delinsAT | ENSP00000427089.2:p.Tyr622Ter | |
| ENST00000508624.5:c.*1188_*1189delinsAT | ENSP00000424265.1:n.*1188_*1189delinsAT | |
| ENST00000512211.6:c.1866_1867delinsAT | ENSP00000423828.2:p.Tyr622Ter | |
| ENST00000520401.1:c.230+6101_230+6102delinsAT | ||
| NM_000038.5:c.1866_1867delinsAT | NP_000029.2:p.Tyr622Ter | |
| NM_001127510.2:c.1866_1867delinsAT | NP_001120982.1:p.Tyr622Ter | |
| NM_001127511.2:c.1812_1813delinsAT | NP_001120983.2:p.Tyr604Ter | |
| NM_001354895.1:c.1866_1867delinsAT | NP_001341824.1:p.Tyr622Ter | |
| NM_001354896.1:c.1920_1921delinsAT | NP_001341825.1:p.Tyr640Ter | |
| NM_001354897.1:c.1896_1897delinsAT | NP_001341826.1:p.Tyr632Ter | |
| NM_001354898.1:c.1791_1792delinsAT | NP_001341827.1:p.Tyr597Ter | |
| NM_001354899.1:c.1782_1783delinsAT | NP_001341828.1:p.Tyr594Ter | |
| NM_001354900.1:c.1743_1744delinsAT | NP_001341829.1:p.Tyr581Ter | |
| NM_001354901.1:c.1689_1690delinsAT | NP_001341830.1:p.Tyr563Ter | |
| NM_001354902.1:c.1593_1594delinsAT | NP_001341831.1:p.Tyr531Ter | |
| NM_001354903.1:c.1563_1564delinsAT | NP_001341832.1:p.Tyr521Ter | |
| NM_001354904.1:c.1488_1489delinsAT | NP_001341833.1:p.Tyr496Ter | |
| NM_001354905.1:c.1386_1387delinsAT | NP_001341834.1:p.Tyr462Ter | |
| NM_001354906.1:c.1017_1018delinsAT | NP_001341835.1:p.Tyr339Ter | |
| NM_000038.6:c.1866_1867delinsAT MANE Select | NP_000029.2:p.Tyr622Ter | |
| NM_001127510.3:c.1866_1867delinsAT | NP_001120982.1:p.Tyr622Ter | |
| NM_001127511.3:c.1812_1813delinsAT | NP_001120983.2:p.Tyr604Ter | |
| NM_001354895.2:c.1866_1867delinsAT | NP_001341824.1:p.Tyr622Ter | |
| NM_001354896.2:c.1920_1921delinsAT | NP_001341825.1:p.Tyr640Ter | |
| NM_001354897.2:c.1896_1897delinsAT | NP_001341826.1:p.Tyr632Ter | |
| NM_001354898.2:c.1791_1792delinsAT | NP_001341827.1:p.Tyr597Ter | |
| NM_001354899.2:c.1782_1783delinsAT | NP_001341828.1:p.Tyr594Ter | |
| NM_001354900.2:c.1743_1744delinsAT | NP_001341829.1:p.Tyr581Ter | |
| NM_001354901.2:c.1689_1690delinsAT | NP_001341830.1:p.Tyr563Ter | |
| NM_001354902.2:c.1593_1594delinsAT | NP_001341831.1:p.Tyr531Ter | |
| NM_001354903.2:c.1563_1564delinsAT | NP_001341832.1:p.Tyr521Ter | |
| NM_001354904.2:c.1488_1489delinsAT | NP_001341833.1:p.Tyr496Ter | |
| NM_001354905.2:c.1386_1387delinsAT | NP_001341834.1:p.Tyr462Ter | |
| NM_001354906.2:c.1017_1018delinsAT | NP_001341835.1:p.Tyr339Ter |