UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
gnomAD v4:
10-18539250-GACTGATCGCTCCGCTCCT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.18539252_18539269del , CM000672.2:g.18539252_18539269del | GRCh38 |
| NC_000010.10:g.18828181_18828198del , CM000672.1:g.18828181_18828198del | GRCh37 |
| NC_000010.9:g.18868187_18868204del | NCBI36 |
| NG_016195.1:g.403576_403593del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377315.6:c.1367_1384del (CACNB2) | ENSP00000366532.4:p.Thr456_Pro461del | |
| ENST00000377319.9:c.1232_1249del (CACNB2) | ENSP00000366536.3:p.Thr411_Pro416del | |
| ENST00000645287.2:c.1355_1372del (CACNB2) | ENSP00000496203.1:p.Thr452_Pro457del | |
| ENST00000282343.13:c.1427_1444del (CACNB2) | ENSP00000282343.8:p.Thr476_Pro481del | |
| ENST00000324631.13:c.1511_1528del (CACNB2) MANE Select | ENSP00000320025.8:p.Thr504_Pro509del | |
| ENST00000377315.5:c.1367_1384del (CACNB2) | ENSP00000366532.4:p.Thr456_Pro461del | |
| ENST00000377319.8:c.1232_1249del (CACNB2) | ENSP00000366536.3:p.Thr411_Pro416del | |
| ENST00000377329.10:c.1349_1366del (CACNB2) MANE Plus Clinical | ENSP00000366546.4:p.Thr450_Pro455del | |
| ENST00000377331.8:c.1136_1153del (CACNB2) | ENSP00000366548.4:p.Thr379_Pro384del | |
| ENST00000643096.2:c.1313_1330del (CACNB2) | ENSP00000494209.2:p.Thr438_Pro443del | |
| ENST00000645287.1:c.1355_1372del (CACNB2) | ENSP00000496203.1:p.Thr452_Pro457del | |
| ENST00000647168.2:c.*652_*669del (CACNB2) | ENSP00000495854.2:n.*652_*669del | |
| ENST00000650685.1:c.1253_1270del (CACNB2) | ENSP00000498460.1:p.Thr418_Pro423del | |
| ENST00000651330.1:c.*785_*802del (CACNB2) | ENSP00000498457.1:n.*785_*802del | |
| ENST00000651468.1:c.1068_1085del (CACNB2) | ENSP00000498352.1:n.1068_1085del | |
| ENST00000651928.1:c.*750_*767del (CACNB2) | ENSP00000499177.1:n.*750_*767del | |
| ENST00000652391.1:c.1331_1348del (CACNB2) | ENSP00000498938.1:p.Thr444_Pro449del | |
| ENST00000652478.1:c.*611_*628del (CACNB2) | ENSP00000498812.1:n.*611_*628del | |
| ENST00000282343.12:c.1427_1444del (CACNB2) | ENSP00000282343.8:p.Thr476_Pro481del | |
| ENST00000324631.11:c.1511_1528del (CACNB2) | ENSP00000320025.7:p.Thr504_Pro509del | |
| ENST00000352115.10:c.1439_1456del (CACNB2) | ENSP00000344474.6:p.Thr480_Pro485del | |
| ENST00000377315.4:c.1367_1384del (CACNB2) | ENSP00000366532.4:p.Thr456_Pro461del | |
| ENST00000377319.7:c.1232_1249del (CACNB2) | ENSP00000366536.3:p.Thr411_Pro416del | |
| ENST00000377328.5:c.761_778del (CACNB2) | ENSP00000366545.1:p.Thr254_Pro259del | |
| ENST00000377329.8:c.1349_1366del (CACNB2) | ENSP00000366546.4:p.Thr450_Pro455del | |
| ENST00000377331.6:c.1355_1372del (CACNB2) | ENSP00000366548.2:p.Thr452_Pro457del | |
| ENST00000396576.6:c.1346_1363del (CACNB2) | ENSP00000379821.2:p.Thr449_Pro454del | |
| ENST00000612134.4:c.1215_1232del (CACNB2) | ENSP00000480563.1:n.1215_1232del | |
| ENST00000612743.1:c.35-12_40del (CACNB2) | ||
| ENST00000615785.4:c.596_613del (CACNB2) | ENSP00000480260.1:p.Thr199_Pro204del | |
| ENST00000617363.4:c.1274_1291del (CACNB2) | ENSP00000479756.1:p.Thr425_Pro430del | |
| NM_000724.3:c.1346_1363del (CACNB2) | NP_000715.2:p.Thr449_Pro454del | |
| NM_001167945.1:c.1313_1330del (CACNB2) | NP_001161417.1:p.Thr438_Pro443del | |
| NM_201570.2:c.1367_1384del (CACNB2) | NP_963864.1:p.Thr456_Pro461del | |
| NM_201571.3:c.1427_1444del (CACNB2) | NP_963865.2:p.Thr476_Pro481del | |
| NM_201572.3:c.1355_1372del (CACNB2) | NP_963866.2:p.Thr452_Pro457del | |
| NM_201590.2:c.1349_1366del (CACNB2) | NP_963884.2:p.Thr450_Pro455del | |
| NM_201593.2:c.1397_1414del (CACNB2) | NP_963887.2:p.Thr466_Pro471del | |
| NM_201596.2:c.1511_1528del (CACNB2) | NP_963890.2:p.Thr504_Pro509del | |
| NM_201597.2:c.1439_1456del (CACNB2) | NP_963891.1:p.Thr480_Pro485del | |
| XM_005252588.2:c.1253_1270del (CACNB2) | XP_005252645.1:p.Thr418_Pro423del | |
| XM_005252591.2:c.671_688del (CACNB2) | XP_005252648.1:p.Thr224_Pro229del | |
| XM_006717502.2:c.1331_1348del (CACNB2) | XP_006717565.1:p.Thr444_Pro449del | |
| XM_011519659.1:c.1277_1294del (CACNB2) | XP_011517961.1:p.Thr426_Pro431del | |
| XM_011519660.1:c.1232_1249del (CACNB2) | XP_011517962.1:p.Thr411_Pro416del | |
| NM_001330060.1:c.1232_1249del (CACNB2) | NP_001316989.1:p.Thr411_Pro416del | |
| XM_005252588.4:c.1253_1270del (CACNB2) | XP_005252645.1:p.Thr418_Pro423del | |
| XM_005252591.3:c.671_688del (CACNB2) | XP_005252648.1:p.Thr224_Pro229del | |
| XM_006717502.3:c.1331_1348del (CACNB2) | XP_006717565.1:p.Thr444_Pro449del | |
| XM_011519659.2:c.1277_1294del (CACNB2) | XP_011517961.1:p.Thr426_Pro431del | |
| XM_017016625.1:c.671_688del (CACNB2) | XP_016872114.1:p.Thr224_Pro229del | |
| XR_001747060.1:n.2423+2801_2423+2818del (NSUN6) | ||
| XR_001747198.1:n.1636_1653del (CACNB2) | ||
| NM_000724.4:c.1346_1363del (CACNB2) | NP_000715.2:p.Thr449_Pro454del | |
| NM_001167945.2:c.1313_1330del (CACNB2) | NP_001161417.1:p.Thr438_Pro443del | |
| NM_001330060.2:c.1232_1249del (CACNB2) | NP_001316989.1:p.Thr411_Pro416del | |
| NM_201570.3:c.1367_1384del (CACNB2) | NP_963864.1:p.Thr456_Pro461del | |
| NM_201571.4:c.1427_1444del (CACNB2) | NP_963865.2:p.Thr476_Pro481del | |
| NM_201572.4:c.1355_1372del (CACNB2) | NP_963866.2:p.Thr452_Pro457del | |
| NM_201590.3:c.1349_1366del (CACNB2) MANE Plus Clinical | NP_963884.2:p.Thr450_Pro455del | |
| NM_201593.3:c.1397_1414del (CACNB2) | NP_963887.2:p.Thr466_Pro471del | |
| NM_201596.3:c.1511_1528del (CACNB2) MANE Select | NP_963890.2:p.Thr504_Pro509del | |
| NM_201597.3:c.1439_1456del (CACNB2) | NP_963891.1:p.Thr480_Pro485del |