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_000002.12:g.71664507_71664508insACACAAATGTACTCACGTACACACACACACATACATGGACA , CM000664.2:g.71664507_71664508insACACAAATGTACTCACGTACACACACACACATACATGGACA | GRCh38 |
| NC_000002.11:g.71891637_71891638insACACAAATGTACTCACGTACACACACACACATACATGGACA , CM000664.1:g.71891637_71891638insACACAAATGTACTCACGTACACACACACACATACATGGACA | GRCh37 |
| NC_000002.10:g.71745145_71745146insACACAAATGTACTCACGTACACACACACACATACATGGACA | NCBI36 |
| NG_008694.1:g.215885_215886insACACAAATGTACTCACGTACACACACACACATACATGGACA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698057.1:c.2588+69_2588+70insACACAAATGTACTCACGTACACACACACACATACATGGACA | ENSP00000513536.1:n.2588+69_2588+70insACACAAATGTACTCACGTACACA... | |
| ENST00000698058.1:c.1805+69_1805+70insACACAAATGTACTCACGTACACACACACACATACATGGACA | ENSP00000513537.1:n.1805+69_1805+70insACACAAATGTACTCACGTACACA... | |
| ENST00000698059.1:c.1913+69_1913+70insACACAAATGTACTCACGTACACACACACACATACATGGACA | ENSP00000513538.1:n.1913+69_1913+70insACACAAATGTACTCACGTACACA... | |
| ENST00000258104.8:c.5057+69_5057+70insACACAAATGTACTCACGTACACACACACACATACATGGACA MANE Plus Clinical | ENSP00000258104.3:n.5057+69_5057+70insACACAAATGTACTCACGTACACA... | |
| ENST00000410020.8:c.5174+69_5174+70insACACAAATGTACTCACGTACACACACACACATACATGGACA MANE Select | ENSP00000386881.3:n.5174+69_5174+70insACACAAATGTACTCACGTACACA... | |
| ENST00000258104.7:c.5057+69_5057+70insACACAAATGTACTCACGTACACACACACACATACATGGACA | ENSP00000258104.3:n.5057+69_5057+70insACACAAATGTACTCACGTACACA... | |
| ENST00000394120.6:c.5060+69_5060+70insACACAAATGTACTCACGTACACACACACACATACATGGACA | ENSP00000377678.2:n.5060+69_5060+70insACACAAATGTACTCACGTACACA... | |
| ENST00000409366.5:c.5123+69_5123+70insACACAAATGTACTCACGTACACACACACACATACATGGACA | ENSP00000386512.1:n.5123+69_5123+70insACACAAATGTACTCACGTACACA... | |
| ENST00000409582.7:c.5171+69_5171+70insACACAAATGTACTCACGTACACACACACACATACATGGACA | ENSP00000386547.3:n.5171+69_5171+70insACACAAATGTACTCACGTACACA... | |
| ENST00000409651.5:c.5153+69_5153+70insACACAAATGTACTCACGTACACACACACACATACATGGACA | ENSP00000386683.1:n.5153+69_5153+70insACACAAATGTACTCACGTACACA... | |
| ENST00000409744.5:c.5081+69_5081+70insACACAAATGTACTCACGTACACACACACACATACATGGACA | ENSP00000386285.1:n.5081+69_5081+70insACACAAATGTACTCACGTACACA... | |
| ENST00000409762.5:c.5108+69_5108+70insACACAAATGTACTCACGTACACACACACACATACATGGACA | ENSP00000387137.1:n.5108+69_5108+70insACACAAATGTACTCACGTACACA... | |
| ENST00000410020.7:c.5174+69_5174+70insACACAAATGTACTCACGTACACACACACACATACATGGACA | ENSP00000386881.3:n.5174+69_5174+70insACACAAATGTACTCACGTACACA... | |
| ENST00000410041.1:c.5111+69_5111+70insACACAAATGTACTCACGTACACACACACACATACATGGACA | ENSP00000386617.1:n.5111+69_5111+70insACACAAATGTACTCACGTACACA... | |
| ENST00000413539.6:c.5150+69_5150+70insACACAAATGTACTCACGTACACACACACACATACATGGACA | ENSP00000407046.2:n.5150+69_5150+70insACACAAATGTACTCACGTACACA... | |
| ENST00000429174.6:c.5120+69_5120+70insACACAAATGTACTCACGTACACACACACACATACATGGACA | ENSP00000398305.2:n.5120+69_5120+70insACACAAATGTACTCACGTACACA... | |
| ENST00000479049.6:n.1942+69_1942+70insACACAAATGTACTCACGTACACACACACACATACATGGACA | ||
| NM_001130455.1:c.5060+69_5060+70insACACAAATGTACTCACGTACACACACACACATACATGGACA | NP_001123927.1:n.5060+69_5060+70insACACAAATGTACTCACGTACACACAC... | |
| NM_001130976.1:c.5015+69_5015+70insACACAAATGTACTCACGTACACACACACACATACATGGACA | NP_001124448.1:n.5015+69_5015+70insACACAAATGTACTCACGTACACACAC... | |
| NM_001130977.1:c.5078+69_5078+70insACACAAATGTACTCACGTACACACACACACATACATGGACA | NP_001124449.1:n.5078+69_5078+70insACACAAATGTACTCACGTACACACAC... | |
| NM_001130978.1:c.5120+69_5120+70insACACAAATGTACTCACGTACACACACACACATACATGGACA | NP_001124450.1:n.5120+69_5120+70insACACAAATGTACTCACGTACACACAC... | |
| NM_001130979.1:c.5150+69_5150+70insACACAAATGTACTCACGTACACACACACACATACATGGACA | NP_001124451.1:n.5150+69_5150+70insACACAAATGTACTCACGTACACACAC... | |
| NM_001130980.1:c.5108+69_5108+70insACACAAATGTACTCACGTACACACACACACATACATGGACA | NP_001124452.1:n.5108+69_5108+70insACACAAATGTACTCACGTACACACAC... | |
| NM_001130981.1:c.5171+69_5171+70insACACAAATGTACTCACGTACACACACACACATACATGGACA | NP_001124453.1:n.5171+69_5171+70insACACAAATGTACTCACGTACACACAC... | |
| NM_001130982.1:c.5153+69_5153+70insACACAAATGTACTCACGTACACACACACACATACATGGACA | NP_001124454.1:n.5153+69_5153+70insACACAAATGTACTCACGTACACACAC... | |
| NM_001130983.1:c.5123+69_5123+70insACACAAATGTACTCACGTACACACACACACATACATGGACA | NP_001124455.1:n.5123+69_5123+70insACACAAATGTACTCACGTACACACAC... | |
| NM_001130984.1:c.5081+69_5081+70insACACAAATGTACTCACGTACACACACACACATACATGGACA | NP_001124456.1:n.5081+69_5081+70insACACAAATGTACTCACGTACACACAC... | |
| NM_001130985.1:c.5111+69_5111+70insACACAAATGTACTCACGTACACACACACACATACATGGACA | NP_001124457.1:n.5111+69_5111+70insACACAAATGTACTCACGTACACACAC... | |
| NM_001130986.1:c.5018+69_5018+70insACACAAATGTACTCACGTACACACACACACATACATGGACA | NP_001124458.1:n.5018+69_5018+70insACACAAATGTACTCACGTACACACAC... | |
| NM_001130987.1:c.5174+69_5174+70insACACAAATGTACTCACGTACACACACACACATACATGGACA | NP_001124459.1:n.5174+69_5174+70insACACAAATGTACTCACGTACACACAC... | |
| NM_003494.3:c.5057+69_5057+70insACACAAATGTACTCACGTACACACACACACATACATGGACA | NP_003485.1:n.5057+69_5057+70insACACAAATGTACTCACGTACACACACACA... | |
| XM_005264584.3:c.5216+69_5216+70insACACAAATGTACTCACGTACACACACACACATACATGGACA | XP_005264641.1:n.5216+69_5216+70insACACAAATGTACTCACGTACACACAC... | |
| XM_005264585.3:c.5213+69_5213+70insACACAAATGTACTCACGTACACACACACACATACATGGACA | XP_005264642.1:n.5213+69_5213+70insACACAAATGTACTCACGTACACACAC... | |
| XM_005264584.4:c.5216+69_5216+70insACACAAATGTACTCACGTACACACACACACATACATGGACA | XP_005264641.1:n.5216+69_5216+70insACACAAATGTACTCACGTACACACAC... | |
| XM_005264585.5:c.5213+69_5213+70insACACAAATGTACTCACGTACACACACACACATACATGGACA | XP_005264642.1:n.5213+69_5213+70insACACAAATGTACTCACGTACACACAC... | |
| XR_001738969.1:n.5443_5444insACACAAATGTACTCACGTACACACACACACATACATGGACA | ||
| NM_001130987.2:c.5174+69_5174+70insACACAAATGTACTCACGTACACACACACACATACATGGACA MANE Select | NP_001124459.1:n.5174+69_5174+70insACACAAATGTACTCACGTACACACAC... | |
| NM_001130455.2:c.5060+69_5060+70insACACAAATGTACTCACGTACACACACACACATACATGGACA | NP_001123927.1:n.5060+69_5060+70insACACAAATGTACTCACGTACACACAC... | |
| NM_001130976.2:c.5015+69_5015+70insACACAAATGTACTCACGTACACACACACACATACATGGACA | NP_001124448.1:n.5015+69_5015+70insACACAAATGTACTCACGTACACACAC... | |
| NM_001130977.2:c.5078+69_5078+70insACACAAATGTACTCACGTACACACACACACATACATGGACA | NP_001124449.1:n.5078+69_5078+70insACACAAATGTACTCACGTACACACAC... | |
| NM_001130978.2:c.5120+69_5120+70insACACAAATGTACTCACGTACACACACACACATACATGGACA | NP_001124450.1:n.5120+69_5120+70insACACAAATGTACTCACGTACACACAC... | |
| NM_001130979.2:c.5150+69_5150+70insACACAAATGTACTCACGTACACACACACACATACATGGACA | NP_001124451.1:n.5150+69_5150+70insACACAAATGTACTCACGTACACACAC... | |
| NM_001130980.2:c.5108+69_5108+70insACACAAATGTACTCACGTACACACACACACATACATGGACA | NP_001124452.1:n.5108+69_5108+70insACACAAATGTACTCACGTACACACAC... | |
| NM_001130981.2:c.5171+69_5171+70insACACAAATGTACTCACGTACACACACACACATACATGGACA | NP_001124453.1:n.5171+69_5171+70insACACAAATGTACTCACGTACACACAC... | |
| NM_001130982.2:c.5153+69_5153+70insACACAAATGTACTCACGTACACACACACACATACATGGACA | NP_001124454.1:n.5153+69_5153+70insACACAAATGTACTCACGTACACACAC... | |
| NM_001130983.2:c.5123+69_5123+70insACACAAATGTACTCACGTACACACACACACATACATGGACA | NP_001124455.1:n.5123+69_5123+70insACACAAATGTACTCACGTACACACAC... | |
| NM_001130984.2:c.5081+69_5081+70insACACAAATGTACTCACGTACACACACACACATACATGGACA | NP_001124456.1:n.5081+69_5081+70insACACAAATGTACTCACGTACACACAC... | |
| NM_001130985.2:c.5111+69_5111+70insACACAAATGTACTCACGTACACACACACACATACATGGACA | NP_001124457.1:n.5111+69_5111+70insACACAAATGTACTCACGTACACACAC... | |
| NM_001130986.2:c.5018+69_5018+70insACACAAATGTACTCACGTACACACACACACATACATGGACA | NP_001124458.1:n.5018+69_5018+70insACACAAATGTACTCACGTACACACAC... | |
| NM_003494.4:c.5057+69_5057+70insACACAAATGTACTCACGTACACACACACACATACATGGACA MANE Plus Clinical | NP_003485.1:n.5057+69_5057+70insACACAAATGTACTCACGTACACACACACA... |