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.53823524_53823538delinsGAAAGGCAGGGCAGA , CM000672.2:g.53823524_53823538delinsGAAAGGCAGGGCAGA | GRCh38 |
| NC_000010.10:g.55583284_55583298delinsGAAAGGCAGGGCAGA , CM000672.1:g.55583284_55583298delinsGAAAGGCAGGGCAGA | GRCh37 |
| NC_000010.9:g.55253290_55253304delinsGAAAGGCAGGGCAGA | NCBI36 |
| NG_009191.2:g.982754_982768delinsTCTGCCCTGCCTTTC | |
| NG_009191.3:g.1810645_1810659delinsTCTGCCCTGCCTTTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613657.6:c.4409+1598_4409+1612delinsTCTGCCCTGCCTTTC | ENSP00000482794.1:n.4409+1598_4409+1612delinsTCTGCCCTGCCTTTC | |
| ENST00000320301.11:c.4368-180_4368-166delinsTCTGCCCTGCCTTTC MANE Plus Clinical | ENSP00000322604.6:n.4368-180_4368-166delinsTCTGCCCTGCCTTTC | |
| ENST00000395445.6:c.4388+3855_4388+3869delinsTCTGCCCTGCCTTTC | ENSP00000378832.2:n.4388+3855_4388+3869delinsTCTGCCCTGCCTTTC | |
| ENST00000613657.5:c.4409+1598_4409+1612delinsTCTGCCCTGCCTTTC | ENSP00000482794.1:n.4409+1598_4409+1612delinsTCTGCCCTGCCTTTC | |
| ENST00000642496.1:c.3227-3308_3227-3294delinsTCTGCCCTGCCTTTC | ||
| ENST00000644397.2:c.4368-3308_4368-3294delinsTCTGCCCTGCCTTTC MANE Select | ENSP00000495195.1:n.4368-3308_4368-3294delinsTCTGCCCTGCCTTTC | |
| ENST00000320301.10:c.4368-180_4368-166delinsTCTGCCCTGCCTTTC | ENSP00000322604.6:n.4368-180_4368-166delinsTCTGCCCTGCCTTTC | |
| ENST00000361849.7:c.4374-180_4374-166delinsTCTGCCCTGCCTTTC | ENSP00000354950.3:n.4374-180_4374-166delinsTCTGCCCTGCCTTTC | |
| ENST00000373956.7:c.*2323-180_*2323-166delinsTCTGCCCTGCCTTTC | ENSP00000363067.4:n.*2323-180_*2323-166delinsTCTGCCCTGCCTTTC | |
| ENST00000373957.7:c.4389-180_4389-166delinsTCTGCCCTGCCTTTC | ENSP00000363068.4:n.4389-180_4389-166delinsTCTGCCCTGCCTTTC | |
| ENST00000373965.6:c.4373+1598_4373+1612delinsTCTGCCCTGCCTTTC | ENSP00000363076.3:n.4373+1598_4373+1612delinsTCTGCCCTGCCTTTC | |
| ENST00000395430.5:c.4359-180_4359-166delinsTCTGCCCTGCCTTTC | ENSP00000378818.1:n.4359-180_4359-166delinsTCTGCCCTGCCTTTC | |
| ENST00000395432.6:c.4248-180_4248-166delinsTCTGCCCTGCCTTTC | ENSP00000378820.2:n.4248-180_4248-166delinsTCTGCCCTGCCTTTC | |
| ENST00000395433.5:c.4299-180_4299-166delinsTCTGCCCTGCCTTTC | ENSP00000378821.1:n.4299-180_4299-166delinsTCTGCCCTGCCTTTC | |
| ENST00000395438.5:c.4371+3854_4371+3868delinsTCTGCCCTGCCTTTC | ENSP00000378826.2:n.4371+3854_4371+3868delinsTCTGCCCTGCCTTTC | |
| ENST00000395440.5:c.1306-13992_1306-13978delinsTCTGCCCTGCCTTTC | ENSP00000378827.1:n.1306-13992_1306-13978delinsTCTGCCCTGCCTTT... | |
| ENST00000395442.5:c.1099-13992_1099-13978delinsTCTGCCCTGCCTTTC | ENSP00000378829.1:n.1099-13992_1099-13978delinsTCTGCCCTGCCTTT... | |
| ENST00000395445.5:c.4388+3855_4388+3869delinsTCTGCCCTGCCTTTC | ENSP00000378832.2:n.4388+3855_4388+3869delinsTCTGCCCTGCCTTTC | |
| ENST00000395446.5:c.2092-13992_2092-13978delinsTCTGCCCTGCCTTTC | ENSP00000378833.1:n.2092-13992_2092-13978delinsTCTGCCCTGCCTTT... | |
| ENST00000409834.5:c.3206+1598_3206+1612delinsTCTGCCCTGCCTTTC | ENSP00000386693.1:n.3206+1598_3206+1612delinsTCTGCCCTGCCTTTC | |
| ENST00000414367.5:c.*447+3855_*447+3869delinsTCTGCCCTGCCTTTC | ENSP00000412531.1:n.*447+3855_*447+3869delinsTCTGCCCTGCCTTTC | |
| ENST00000414778.5:c.4370+3855_4370+3869delinsTCTGCCCTGCCTTTC | ENSP00000410304.2:n.4370+3855_4370+3869delinsTCTGCCCTGCCTTTC | |
| ENST00000437009.5:c.4161-180_4161-166delinsTCTGCCCTGCCTTTC | ENSP00000412628.2:n.4161-180_4161-166delinsTCTGCCCTGCCTTTC | |
| ENST00000448885.5:c.*2329-180_*2329-166delinsTCTGCCCTGCCTTTC | ENSP00000412320.1:n.*2329-180_*2329-166delinsTCTGCCCTGCCTTTC | |
| ENST00000463095.2:n.1387-180_1387-166delinsTCTGCCCTGCCTTTC | ||
| ENST00000495484.5:c.462-5525_462-5511delinsTCTGCCCTGCCTTTC | ENSP00000480780.1:n.462-5525_462-5511delinsTCTGCCCTGCCTTTC | |
| ENST00000612394.4:c.4406+3855_4406+3869delinsTCTGCCCTGCCTTTC | ENSP00000482921.1:n.4406+3855_4406+3869delinsTCTGCCCTGCCTTTC | |
| ENST00000613657.4:c.4409+1598_4409+1612delinsTCTGCCCTGCCTTTC | ENSP00000482794.1:n.4409+1598_4409+1612delinsTCTGCCCTGCCTTTC | |
| ENST00000614895.4:c.4385+3855_4385+3869delinsTCTGCCCTGCCTTTC | ENSP00000478512.1:n.4385+3855_4385+3869delinsTCTGCCCTGCCTTTC | |
| ENST00000616114.4:c.4367+3855_4367+3869delinsTCTGCCCTGCCTTTC | ENSP00000483745.1:n.4367+3855_4367+3869delinsTCTGCCCTGCCTTTC | |
| ENST00000617051.4:c.4386-171_4386-157delinsTCTGCCCTGCCTTTC | ENSP00000484703.1:n.4386-171_4386-157delinsTCTGCCCTGCCTTTC | |
| ENST00000617271.4:c.4373+1598_4373+1612delinsTCTGCCCTGCCTTTC | ENSP00000478076.1:n.4373+1598_4373+1612delinsTCTGCCCTGCCTTTC | |
| ENST00000618301.4:c.593+3855_593+3869delinsTCTGCCCTGCCTTTC | ENSP00000482780.1:n.593+3855_593+3869delinsTCTGCCCTGCCTTTC | |
| ENST00000621708.4:c.4388+1598_4388+1612delinsTCTGCCCTGCCTTTC | ENSP00000484454.1:n.4388+1598_4388+1612delinsTCTGCCCTGCCTTTC | |
| ENST00000622048.4:c.4158-171_4158-157delinsTCTGCCCTGCCTTTC | ENSP00000482329.1:n.4158-171_4158-157delinsTCTGCCCTGCCTTTC | |
| NM_001142763.1:c.4389-180_4389-166delinsTCTGCCCTGCCTTTC | NP_001136235.1:n.4389-180_4389-166delinsTCTGCCCTGCCTTTC | |
| NM_001142764.1:c.4374-180_4374-166delinsTCTGCCCTGCCTTTC | NP_001136236.1:n.4374-180_4374-166delinsTCTGCCCTGCCTTTC | |
| NM_001142765.1:c.4161-180_4161-166delinsTCTGCCCTGCCTTTC | NP_001136237.1:n.4161-180_4161-166delinsTCTGCCCTGCCTTTC | |
| NM_001142766.1:c.4359-180_4359-166delinsTCTGCCCTGCCTTTC | NP_001136238.1:n.4359-180_4359-166delinsTCTGCCCTGCCTTTC | |
| NM_001142767.1:c.4248-180_4248-166delinsTCTGCCCTGCCTTTC | NP_001136239.1:n.4248-180_4248-166delinsTCTGCCCTGCCTTTC | |
| NM_001142768.1:c.4308-180_4308-166delinsTCTGCCCTGCCTTTC | NP_001136240.1:n.4308-180_4308-166delinsTCTGCCCTGCCTTTC | |
| NM_001142769.1:c.4409+1598_4409+1612delinsTCTGCCCTGCCTTTC | NP_001136241.1:n.4409+1598_4409+1612delinsTCTGCCCTGCCTTTC | |
| NM_001142770.1:c.4373+1598_4373+1612delinsTCTGCCCTGCCTTTC | NP_001136242.1:n.4373+1598_4373+1612delinsTCTGCCCTGCCTTTC | |
| NM_001142771.1:c.4388+1598_4388+1612delinsTCTGCCCTGCCTTTC | NP_001136243.1:n.4388+1598_4388+1612delinsTCTGCCCTGCCTTTC | |
| NM_001142772.1:c.4373+1598_4373+1612delinsTCTGCCCTGCCTTTC | NP_001136244.1:n.4373+1598_4373+1612delinsTCTGCCCTGCCTTTC | |
| NM_001142773.1:c.4299-180_4299-166delinsTCTGCCCTGCCTTTC | NP_001136245.1:n.4299-180_4299-166delinsTCTGCCCTGCCTTTC | |
| NM_033056.3:c.4368-180_4368-166delinsTCTGCCCTGCCTTTC | NP_149045.3:n.4368-180_4368-166delinsTCTGCCCTGCCTTTC | |
| NM_001142769.2:c.4409+1598_4409+1612delinsTCTGCCCTGCCTTTC | NP_001136241.1:n.4409+1598_4409+1612delinsTCTGCCCTGCCTTTC | |
| NM_001142770.2:c.4373+1598_4373+1612delinsTCTGCCCTGCCTTTC | NP_001136242.1:n.4373+1598_4373+1612delinsTCTGCCCTGCCTTTC | |
| NM_001354404.1:c.4302-180_4302-166delinsTCTGCCCTGCCTTTC | NP_001341333.1:n.4302-180_4302-166delinsTCTGCCCTGCCTTTC | |
| NM_001354411.1:c.4388+3855_4388+3869delinsTCTGCCCTGCCTTTC | NP_001341340.1:n.4388+3855_4388+3869delinsTCTGCCCTGCCTTTC | |
| NM_001354420.1:c.4367+3855_4367+3869delinsTCTGCCCTGCCTTTC | NP_001341349.1:n.4367+3855_4367+3869delinsTCTGCCCTGCCTTTC | |
| NM_001354429.1:c.4367+3855_4367+3869delinsTCTGCCCTGCCTTTC | NP_001341358.1:n.4367+3855_4367+3869delinsTCTGCCCTGCCTTTC | |
| XM_017016573.2:c.4388+1598_4388+1612delinsTCTGCCCTGCCTTTC | XP_016872062.1:n.4388+1598_4388+1612delinsTCTGCCCTGCCTTTC | |
| XR_001747192.2:n.5381-180_5381-166delinsTCTGCCCTGCCTTTC | ||
| XR_001747193.2:n.5372-180_5372-166delinsTCTGCCCTGCCTTTC | ||
| NM_001142763.2:c.4389-180_4389-166delinsTCTGCCCTGCCTTTC | NP_001136235.1:n.4389-180_4389-166delinsTCTGCCCTGCCTTTC | |
| NM_001142764.2:c.4374-180_4374-166delinsTCTGCCCTGCCTTTC | NP_001136236.1:n.4374-180_4374-166delinsTCTGCCCTGCCTTTC | |
| NM_001142765.2:c.4161-180_4161-166delinsTCTGCCCTGCCTTTC | NP_001136237.1:n.4161-180_4161-166delinsTCTGCCCTGCCTTTC | |
| NM_001142766.2:c.4359-180_4359-166delinsTCTGCCCTGCCTTTC | NP_001136238.1:n.4359-180_4359-166delinsTCTGCCCTGCCTTTC | |
| NM_001142768.2:c.4308-180_4308-166delinsTCTGCCCTGCCTTTC | NP_001136240.1:n.4308-180_4308-166delinsTCTGCCCTGCCTTTC | |
| NM_001142769.3:c.4409+1598_4409+1612delinsTCTGCCCTGCCTTTC | NP_001136241.1:n.4409+1598_4409+1612delinsTCTGCCCTGCCTTTC | |
| NM_001142770.3:c.4373+1598_4373+1612delinsTCTGCCCTGCCTTTC | NP_001136242.1:n.4373+1598_4373+1612delinsTCTGCCCTGCCTTTC | |
| NM_001142771.2:c.4388+1598_4388+1612delinsTCTGCCCTGCCTTTC | NP_001136243.1:n.4388+1598_4388+1612delinsTCTGCCCTGCCTTTC | |
| NM_001142772.2:c.4373+1598_4373+1612delinsTCTGCCCTGCCTTTC | NP_001136244.1:n.4373+1598_4373+1612delinsTCTGCCCTGCCTTTC | |
| NM_001142773.2:c.4299-180_4299-166delinsTCTGCCCTGCCTTTC | NP_001136245.1:n.4299-180_4299-166delinsTCTGCCCTGCCTTTC | |
| NM_001354411.2:c.4388+3855_4388+3869delinsTCTGCCCTGCCTTTC | NP_001341340.1:n.4388+3855_4388+3869delinsTCTGCCCTGCCTTTC | |
| NM_001354420.2:c.4367+3855_4367+3869delinsTCTGCCCTGCCTTTC | NP_001341349.1:n.4367+3855_4367+3869delinsTCTGCCCTGCCTTTC | |
| NM_001354429.2:c.4367+3855_4367+3869delinsTCTGCCCTGCCTTTC | NP_001341358.1:n.4367+3855_4367+3869delinsTCTGCCCTGCCTTTC | |
| NM_033056.4:c.4368-180_4368-166delinsTCTGCCCTGCCTTTC MANE Plus Clinical | NP_149045.3:n.4368-180_4368-166delinsTCTGCCCTGCCTTTC | |
| NM_001142767.2:c.4248-180_4248-166delinsTCTGCCCTGCCTTTC | NP_001136239.1:n.4248-180_4248-166delinsTCTGCCCTGCCTTTC | |
| NM_001354404.2:c.4302-180_4302-166delinsTCTGCCCTGCCTTTC | NP_001341333.1:n.4302-180_4302-166delinsTCTGCCCTGCCTTTC | |
| NM_001384140.1:c.4368-3308_4368-3294delinsTCTGCCCTGCCTTTC MANE Select | NP_001371069.1:n.4368-3308_4368-3294delinsTCTGCCCTGCCTTTC |