SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.18539478_18539499delinsGGACCACTATGCCTCACACCGT , CM000672.2:g.18539478_18539499delinsGGACCACTATGCCTCACACCGT | GRCh38 |
| NC_000010.10:g.18828407_18828428delinsGGACCACTATGCCTCACACCGT , CM000672.1:g.18828407_18828428delinsGGACCACTATGCCTCACACCGT | GRCh37 |
| NC_000010.9:g.18868413_18868434delinsGGACCACTATGCCTCACACCGT | NCBI36 |
| NG_016195.1:g.403802_403823delinsGGACCACTATGCCTCACACCGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377315.6:c.1593_1614delinsGGACCACTATGCCTCACACCGT (CACNB2) | ENSP00000366532.4:p.Val531= | |
| ENST00000377319.9:c.1458_1479delinsGGACCACTATGCCTCACACCGT (CACNB2) | ENSP00000366536.3:p.Val486= | |
| ENST00000645287.2:c.1581_1602delinsGGACCACTATGCCTCACACCGT (CACNB2) | ENSP00000496203.1:p.Val527= | |
| ENST00000282343.13:c.1653_1674delinsGGACCACTATGCCTCACACCGT (CACNB2) | ENSP00000282343.8:p.Val551= | |
| ENST00000324631.13:c.1737_1758delinsGGACCACTATGCCTCACACCGT (CACNB2) MANE Select | ENSP00000320025.8:p.Val579= | |
| ENST00000377315.5:c.1593_1614delinsGGACCACTATGCCTCACACCGT (CACNB2) | ENSP00000366532.4:p.Val531= | |
| ENST00000377319.8:c.1458_1479delinsGGACCACTATGCCTCACACCGT (CACNB2) | ENSP00000366536.3:p.Val486= | |
| ENST00000377329.10:c.1575_1596delinsGGACCACTATGCCTCACACCGT (CACNB2) MANE Plus Clinical | ENSP00000366546.4:p.Val525= | |
| ENST00000377331.8:c.1362_1383delinsGGACCACTATGCCTCACACCGT (CACNB2) | ENSP00000366548.4:p.Val454= | |
| ENST00000643096.2:c.1539_1560delinsGGACCACTATGCCTCACACCGT (CACNB2) | ENSP00000494209.2:p.Val513= | |
| ENST00000645287.1:c.1581_1602delinsGGACCACTATGCCTCACACCGT (CACNB2) | ENSP00000496203.1:p.Val527= | |
| ENST00000647168.2:c.*878_*899delinsGGACCACTATGCCTCACACCGT (CACNB2) | ENSP00000495854.2:n.*878_*899delinsGGACCACTATGCCTCACACCGT | |
| ENST00000650685.1:c.1479_1500delinsGGACCACTATGCCTCACACCGT (CACNB2) | ENSP00000498460.1:p.Val493= | |
| ENST00000651330.1:c.*1011_*1032delinsGGACCACTATGCCTCACACCGT (CACNB2) | ENSP00000498457.1:n.*1011_*1032delinsGGACCACTATGCCTCACACCGT | |
| ENST00000651468.1:c.1294_1315delinsGGACCACTATGCCTCACACCGT (CACNB2) | ENSP00000498352.1:n.1294_1315delinsGGACCACTATGCCTCACACCGT | |
| ENST00000651928.1:c.*976_*997delinsGGACCACTATGCCTCACACCGT (CACNB2) | ENSP00000499177.1:n.*976_*997delinsGGACCACTATGCCTCACACCGT | |
| ENST00000652391.1:c.1557_1578delinsGGACCACTATGCCTCACACCGT (CACNB2) | ENSP00000498938.1:p.Val519= | |
| ENST00000652478.1:c.*837_*858delinsGGACCACTATGCCTCACACCGT (CACNB2) | ENSP00000498812.1:n.*837_*858delinsGGACCACTATGCCTCACACCGT | |
| ENST00000282343.12:c.1653_1674delinsGGACCACTATGCCTCACACCGT (CACNB2) | ENSP00000282343.8:p.Val551= | |
| ENST00000324631.11:c.1737_1758delinsGGACCACTATGCCTCACACCGT (CACNB2) | ENSP00000320025.7:p.Val579= | |
| ENST00000352115.10:c.1665_1686delinsGGACCACTATGCCTCACACCGT (CACNB2) | ENSP00000344474.6:p.Val555= | |
| ENST00000377315.4:c.1593_1614delinsGGACCACTATGCCTCACACCGT (CACNB2) | ENSP00000366532.4:p.Val531= | |
| ENST00000377319.7:c.1458_1479delinsGGACCACTATGCCTCACACCGT (CACNB2) | ENSP00000366536.3:p.Val486= | |
| ENST00000377328.5:c.987_1008delinsGGACCACTATGCCTCACACCGT (CACNB2) | ENSP00000366545.1:p.Val329= | |
| ENST00000377329.8:c.1575_1596delinsGGACCACTATGCCTCACACCGT (CACNB2) | ENSP00000366546.4:p.Val525= | |
| ENST00000377331.6:c.1581_1602delinsGGACCACTATGCCTCACACCGT (CACNB2) | ENSP00000366548.2:p.Val527= | |
| ENST00000396576.6:c.1572_1593delinsGGACCACTATGCCTCACACCGT (CACNB2) | ENSP00000379821.2:p.Val524= | |
| ENST00000612134.4:c.1441_1462delinsGGACCACTATGCCTCACACCGT (CACNB2) | ENSP00000480563.1:n.1441_1462delinsGGACCACTATGCCTCACACCGT | |
| ENST00000612743.1:c.249_270delinsGGACCACTATGCCTCACACCGT (CACNB2) | ENSP00000478676.1:p.Val83= | |
| ENST00000615785.4:c.822_843delinsGGACCACTATGCCTCACACCGT (CACNB2) | ENSP00000480260.1:p.Val274= | |
| ENST00000617363.4:c.1500_1521delinsGGACCACTATGCCTCACACCGT (CACNB2) | ENSP00000479756.1:p.Val500= | |
| NM_000724.3:c.1572_1593delinsGGACCACTATGCCTCACACCGT (CACNB2) | NP_000715.2:p.Val524= | |
| NM_001167945.1:c.1539_1560delinsGGACCACTATGCCTCACACCGT (CACNB2) | NP_001161417.1:p.Val513= | |
| NM_201570.2:c.1593_1614delinsGGACCACTATGCCTCACACCGT (CACNB2) | NP_963864.1:p.Val531= | |
| NM_201571.3:c.1653_1674delinsGGACCACTATGCCTCACACCGT (CACNB2) | NP_963865.2:p.Val551= | |
| NM_201572.3:c.1581_1602delinsGGACCACTATGCCTCACACCGT (CACNB2) | NP_963866.2:p.Val527= | |
| NM_201590.2:c.1575_1596delinsGGACCACTATGCCTCACACCGT (CACNB2) | NP_963884.2:p.Val525= | |
| NM_201593.2:c.1623_1644delinsGGACCACTATGCCTCACACCGT (CACNB2) | NP_963887.2:p.Val541= | |
| NM_201596.2:c.1737_1758delinsGGACCACTATGCCTCACACCGT (CACNB2) | NP_963890.2:p.Val579= | |
| NM_201597.2:c.1665_1686delinsGGACCACTATGCCTCACACCGT (CACNB2) | NP_963891.1:p.Val555= | |
| XM_005252588.2:c.1479_1500delinsGGACCACTATGCCTCACACCGT (CACNB2) | XP_005252645.1:p.Val493= | |
| XM_005252591.2:c.897_918delinsGGACCACTATGCCTCACACCGT (CACNB2) | XP_005252648.1:p.Val299= | |
| XM_006717502.2:c.1557_1578delinsGGACCACTATGCCTCACACCGT (CACNB2) | XP_006717565.1:p.Val519= | |
| XM_011519659.1:c.1503_1524delinsGGACCACTATGCCTCACACCGT (CACNB2) | XP_011517961.1:p.Val501= | |
| XM_011519660.1:c.1458_1479delinsGGACCACTATGCCTCACACCGT (CACNB2) | XP_011517962.1:p.Val486= | |
| NM_001330060.1:c.1458_1479delinsGGACCACTATGCCTCACACCGT (CACNB2) | NP_001316989.1:p.Val486= | |
| XM_005252588.4:c.1479_1500delinsGGACCACTATGCCTCACACCGT (CACNB2) | XP_005252645.1:p.Val493= | |
| XM_005252591.3:c.897_918delinsGGACCACTATGCCTCACACCGT (CACNB2) | XP_005252648.1:p.Val299= | |
| XM_006717502.3:c.1557_1578delinsGGACCACTATGCCTCACACCGT (CACNB2) | XP_006717565.1:p.Val519= | |
| XM_011519659.2:c.1503_1524delinsGGACCACTATGCCTCACACCGT (CACNB2) | XP_011517961.1:p.Val501= | |
| XM_017016625.1:c.897_918delinsGGACCACTATGCCTCACACCGT (CACNB2) | XP_016872114.1:p.Val299= | |
| XR_001747060.1:n.2423+2570_2423+2591delinsACGGTGTGAGGCATAGTGGTCC (NSUN6) | ||
| XR_001747198.1:n.1862_1883delinsGGACCACTATGCCTCACACCGT (CACNB2) | ||
| NM_000724.4:c.1572_1593delinsGGACCACTATGCCTCACACCGT (CACNB2) | NP_000715.2:p.Val524= | |
| NM_001167945.2:c.1539_1560delinsGGACCACTATGCCTCACACCGT (CACNB2) | NP_001161417.1:p.Val513= | |
| NM_001330060.2:c.1458_1479delinsGGACCACTATGCCTCACACCGT (CACNB2) | NP_001316989.1:p.Val486= | |
| NM_201570.3:c.1593_1614delinsGGACCACTATGCCTCACACCGT (CACNB2) | NP_963864.1:p.Val531= | |
| NM_201571.4:c.1653_1674delinsGGACCACTATGCCTCACACCGT (CACNB2) | NP_963865.2:p.Val551= | |
| NM_201572.4:c.1581_1602delinsGGACCACTATGCCTCACACCGT (CACNB2) | NP_963866.2:p.Val527= | |
| NM_201590.3:c.1575_1596delinsGGACCACTATGCCTCACACCGT (CACNB2) MANE Plus Clinical | NP_963884.2:p.Val525= | |
| NM_201593.3:c.1623_1644delinsGGACCACTATGCCTCACACCGT (CACNB2) | NP_963887.2:p.Val541= | |
| NM_201596.3:c.1737_1758delinsGGACCACTATGCCTCACACCGT (CACNB2) MANE Select | NP_963890.2:p.Val579= | |
| NM_201597.3:c.1665_1686delinsGGACCACTATGCCTCACACCGT (CACNB2) | NP_963891.1:p.Val555= |