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.
Linked Data
COSMIC:
COSM5129174
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.151497187_151497853del , CM000664.2:g.151497187_151497853del | GRCh38 |
| NC_000002.11:g.152353701_152354367del , CM000664.1:g.152353701_152354367del | GRCh37 |
| NC_000002.10:g.152061947_152062613del | NCBI36 |
| NG_009382.2:g.241637_242303del , LRG_202:g.241637_242303del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434685.6:c.3075-5357_3075-4691del (NEB) | ||
| ENST00000688578.1:c.900-818_900-152del (NEB) | ||
| ENST00000690043.1:c.6378-3598_6378-2932del (NEB) | ||
| ENST00000693000.1:n.2657-5357_2657-4691del (NEB) | ||
| ENST00000397345.8:c.24208-133_24301-152del (NEB) | ||
| ENST00000427231.7:c.24208-133_24301-152del (NEB) | ||
| ENST00000172853.14:c.18826-1483_18826-817del (NEB) | ENSP00000172853.10:n.18826-1483_18826-817del | |
| ENST00000397337.6:c.609-133_702-152del (NEB) | ||
| ENST00000397345.7:c.24208-133_24301-152del (NEB) | ||
| ENST00000409198.5:c.18826-1483_18826-817del (NEB) | ENSP00000386259.1:n.18826-1483_18826-817del | |
| ENST00000413693.5:c.8026-1483_8026-817del (NEB) | ENSP00000410961.1:n.8026-1483_8026-817del | |
| ENST00000421461.6:c.644-133_737-152del (NEB) | ||
| ENST00000424585.1:c.610-818_610-152del (NEB) | ENSP00000404876.1:n.610-818_610-152del | |
| ENST00000427231.6:c.24208-133_24301-152del (NEB) | ||
| ENST00000434685.5:c.1395-3598_1395-2932del (NEB) | ||
| ENST00000454583.6:c.2753+1861_2754-1492del (RIF1) | ||
| ENST00000457745.1:n.579-599_646del (RIF1) | ||
| ENST00000484077.1:n.353-599_420del (RIF1) | ||
| ENST00000498015.2:n.226-5357_226-4691del (NEB) | ||
| ENST00000603639.5:c.24208-133_24301-152del (NEB) | ||
| ENST00000604864.5:c.24208-133_24301-152del (NEB) | ||
| ENST00000618972.4:c.24313-133_24406-152del (NEB) | ||
| NM_001164507.1:c.24208-133_24301-152del (NEB) | ||
| NM_001164508.1:c.24208-133_24301-152del (NEB) | ||
| NM_001271208.1:c.24313-133_24406-152del , LRG_202t1:c.24313-133_24406-152del (NEB) | ||
| NM_004543.4:c.18826-1483_18826-817del (NEB) | NP_004534.2:n.18826-1483_18826-817del | |
| XM_005246590.1:c.24115-133_24208-152del (NEB) | ||
| XM_005246591.1:c.24115-133_24208-152del (NEB) | ||
| XM_005246592.1:c.24208-133_24300+441del (NEB) | ||
| XM_005246593.1:c.24208-133_24301-152del (NEB) | ||
| XM_005246594.1:c.24115-133_24208-152del (NEB) | ||
| XM_005246595.1:c.24115-133_24208-152del (NEB) | ||
| XM_005246596.1:c.24022-133_24115-152del (NEB) | ||
| XM_005246597.1:c.24208-133_24300+441del (NEB) | ||
| XM_005246598.1:c.24208-133_24301-152del (NEB) | ||
| XM_005246599.1:c.23929-133_24022-152del (NEB) | ||
| XM_005246600.1:c.23929-133_24022-152del (NEB) | ||
| XM_005246601.1:c.23929-818_23929-152del (NEB) | XP_005246658.1:n.23929-818_23929-152del | |
| XM_005246602.1:c.23836-133_23929-152del (NEB) | ||
| XM_005246603.1:c.23929-1483_23929-817del (NEB) | XP_005246660.1:n.23929-1483_23929-817del | |
| XM_005246604.1:c.23929-818_23929-152del (NEB) | XP_005246661.1:n.23929-818_23929-152del | |
| XM_005246606.1:c.23836-133_23928+441del (NEB) | ||
| XM_005246608.1:c.23929-3598_23929-2932del (NEB) | XP_005246665.1:n.23929-3598_23929-2932del | |
| XM_005246610.1:c.23836-3598_23836-2932del (NEB) | XP_005246667.1:n.23836-3598_23836-2932del | |
| XM_005246611.1:c.24021+3540_24022-3740del (NEB) | XP_005246668.1:n.24021+3540_24022-3740del | |
| XM_005246612.1:c.23479-133_23572-152del (NEB) | ||
| XM_005246613.1:c.23479-133_23572-152del (NEB) | ||
| XM_005246615.1:c.23836-133_23928+441del (NEB) | ||
| XM_005246617.1:c.21292-133_21385-152del (NEB) | ||
| XM_006712541.1:c.23929-1483_23929-817del (NEB) | XP_006712604.1:n.23929-1483_23929-817del | |
| XM_006712542.1:c.23929-133_24021+441del (NEB) | ||
| XM_011511224.1:c.24115-133_24208-152del (NEB) | ||
| XM_011511225.1:c.23743-3598_23743-2932del (NEB) | XP_011509527.1:n.23743-3598_23743-2932del | |
| XM_011511226.1:c.22021-133_22114-152del (NEB) | ||
| XM_011511227.1:c.19834-133_19927-152del (NEB) | ||
| XR_922955.1:n.7838+13852_7838+14518del (RIF1) | ||
| XR_922956.1:n.7937-599_8004del (RIF1) | ||
| XM_005246590.2:c.24115-133_24208-152del (NEB) | ||
| XM_005246591.2:c.24115-133_24208-152del (NEB) | ||
| XM_005246592.2:c.24208-133_24300+441del (NEB) | ||
| XM_005246593.2:c.24208-133_24301-152del (NEB) | ||
| XM_005246594.2:c.24115-133_24208-152del (NEB) | ||
| XM_005246596.2:c.24022-133_24115-152del (NEB) | ||
| XM_005246597.2:c.24208-133_24300+441del (NEB) | ||
| XM_005246598.2:c.24208-133_24301-152del (NEB) | ||
| XM_005246599.2:c.23929-133_24022-152del (NEB) | ||
| XM_005246601.2:c.23929-818_23929-152del (NEB) | XP_005246658.1:n.23929-818_23929-152del | |
| XM_005246602.2:c.23836-133_23929-152del (NEB) | ||
| XM_005246603.2:c.23929-1483_23929-817del (NEB) | XP_005246660.1:n.23929-1483_23929-817del | |
| XM_005246604.2:c.23929-818_23929-152del (NEB) | XP_005246661.1:n.23929-818_23929-152del | |
| XM_005246606.2:c.23836-133_23928+441del (NEB) | ||
| XM_005246608.2:c.23929-3598_23929-2932del (NEB) | XP_005246665.1:n.23929-3598_23929-2932del | |
| XM_005246610.2:c.23836-3598_23836-2932del (NEB) | XP_005246667.1:n.23836-3598_23836-2932del | |
| XM_005246611.2:c.24021+3540_24022-3740del (NEB) | XP_005246668.1:n.24021+3540_24022-3740del | |
| XM_005246612.2:c.23479-133_23572-152del (NEB) | ||
| XM_005246613.2:c.23479-133_23572-152del (NEB) | ||
| XM_005246615.2:c.23836-133_23928+441del (NEB) | ||
| XM_005246617.2:c.21292-133_21385-152del (NEB) | ||
| XM_006712541.2:c.23929-1483_23929-817del (NEB) | XP_006712604.1:n.23929-1483_23929-817del | |
| XM_006712542.2:c.23929-133_24021+441del (NEB) | ||
| XM_011511225.2:c.23743-3598_23743-2932del (NEB) | XP_011509527.1:n.23743-3598_23743-2932del | |
| XM_011511226.2:c.22021-133_22114-152del (NEB) | ||
| XM_011511227.2:c.19834-133_19927-152del (NEB) | ||
| XM_017004177.1:c.24097-133_24190-152del (NEB) | ||
| XM_017004178.1:c.24022-133_24115-152del (NEB) | ||
| XM_017004179.1:c.23836-818_23836-152del (NEB) | XP_016859668.1:n.23836-818_23836-152del | |
| XM_017004180.1:c.23743-133_23836-152del (NEB) | ||
| XM_017004181.1:c.23836-1483_23836-817del (NEB) | XP_016859670.1:n.23836-1483_23836-817del | |
| XM_017004182.1:c.23836-1483_23836-817del (NEB) | XP_016859671.1:n.23836-1483_23836-817del | |
| XM_017004183.1:c.23836-3598_23836-2932del (NEB) | XP_016859672.1:n.23836-3598_23836-2932del | |
| XM_017004184.1:c.23836-1483_23836-817del (NEB) | XP_016859673.1:n.23836-1483_23836-817del | |
| XM_017004185.1:c.23743-5357_23743-4691del (NEB) | XP_016859674.1:n.23743-5357_23743-4691del | |
| XR_001738811.2:n.8312-599_8379del (RIF1) | ||
| XR_001738812.2:n.8311+1861_8312-1552del (RIF1) | ||
| XR_001738813.2:n.8214-599_8281del (RIF1) | ||
| XR_001738814.2:n.8214-2218_8214-1552del (RIF1) | ||
| XR_001738815.2:n.8214-5847_8214-5181del (RIF1) | ||
| XR_001738816.2:n.8214-9023_8214-8357del (RIF1) | ||
| XR_001738817.2:n.8213+13852_8213+14518del (RIF1) | ||
| NM_001271208.2:c.24313-133_24406-152del (NEB) | ||
| NM_004543.5:c.18826-1483_18826-817del (NEB) | NP_004534.3:n.18826-1483_18826-817del | |
| NM_001164507.2:c.24208-133_24301-152del (NEB) | ||
| NM_001164508.2:c.24208-133_24301-152del (NEB) |