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
gnomAD v4:
10-53823490-T-TAAAAATACTTAAAAACATC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.53823493_53823494insAATACTTAAAAACATCAAA , CM000672.2:g.53823493_53823494insAATACTTAAAAACATCAAA | GRCh38 |
| NC_000010.10:g.55583253_55583254insAATACTTAAAAACATCAAA , CM000672.1:g.55583253_55583254insAATACTTAAAAACATCAAA | GRCh37 |
| NC_000010.9:g.55253259_55253260insAATACTTAAAAACATCAAA | NCBI36 |
| NG_009191.2:g.982801_982802insGATGTTTTTAAGTATTTTT | |
| NG_009191.3:g.1810692_1810693insGATGTTTTTAAGTATTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613657.6:c.4409+1645_4409+1646insGATGTTTTTAAGTATTTTT | ENSP00000482794.1:n.4409+1645_4409+1646insGATGTTTTTAAGTATTTTT... | |
| ENST00000320301.11:c.4368-133_4368-132insGATGTTTTTAAGTATTTTT MANE Plus Clinical | ENSP00000322604.6:n.4368-133_4368-132insGATGTTTTTAAGTATTTTT | |
| ENST00000395445.6:c.4388+3902_4388+3903insGATGTTTTTAAGTATTTTT | ENSP00000378832.2:n.4388+3902_4388+3903insGATGTTTTTAAGTATTTTT... | |
| ENST00000613657.5:c.4409+1645_4409+1646insGATGTTTTTAAGTATTTTT | ENSP00000482794.1:n.4409+1645_4409+1646insGATGTTTTTAAGTATTTTT... | |
| ENST00000642496.1:c.3227-3261_3227-3260insGATGTTTTTAAGTATTTTT | ||
| ENST00000644397.2:c.4368-3261_4368-3260insGATGTTTTTAAGTATTTTT MANE Select | ENSP00000495195.1:n.4368-3261_4368-3260insGATGTTTTTAAGTATTTTT... | |
| ENST00000320301.10:c.4368-133_4368-132insGATGTTTTTAAGTATTTTT | ENSP00000322604.6:n.4368-133_4368-132insGATGTTTTTAAGTATTTTT | |
| ENST00000361849.7:c.4374-133_4374-132insGATGTTTTTAAGTATTTTT | ENSP00000354950.3:n.4374-133_4374-132insGATGTTTTTAAGTATTTTT | |
| ENST00000373956.7:c.*2323-133_*2323-132insGATGTTTTTAAGTATTTTT | ENSP00000363067.4:n.*2323-133_*2323-132insGATGTTTTTAAGTATTTTT... | |
| ENST00000373957.7:c.4389-133_4389-132insGATGTTTTTAAGTATTTTT | ENSP00000363068.4:n.4389-133_4389-132insGATGTTTTTAAGTATTTTT | |
| ENST00000373965.6:c.4373+1645_4373+1646insGATGTTTTTAAGTATTTTT | ENSP00000363076.3:n.4373+1645_4373+1646insGATGTTTTTAAGTATTTTT... | |
| ENST00000395430.5:c.4359-133_4359-132insGATGTTTTTAAGTATTTTT | ENSP00000378818.1:n.4359-133_4359-132insGATGTTTTTAAGTATTTTT | |
| ENST00000395432.6:c.4248-133_4248-132insGATGTTTTTAAGTATTTTT | ENSP00000378820.2:n.4248-133_4248-132insGATGTTTTTAAGTATTTTT | |
| ENST00000395433.5:c.4299-133_4299-132insGATGTTTTTAAGTATTTTT | ENSP00000378821.1:n.4299-133_4299-132insGATGTTTTTAAGTATTTTT | |
| ENST00000395438.5:c.4371+3901_4371+3902insGATGTTTTTAAGTATTTTT | ENSP00000378826.2:n.4371+3901_4371+3902insGATGTTTTTAAGTATTTTT... | |
| ENST00000395440.5:c.1306-13945_1306-13944insGATGTTTTTAAGTATTTTT | ENSP00000378827.1:n.1306-13945_1306-13944insGATGTTTTTAAGTATTT... | |
| ENST00000395442.5:c.1099-13945_1099-13944insGATGTTTTTAAGTATTTTT | ENSP00000378829.1:n.1099-13945_1099-13944insGATGTTTTTAAGTATTT... | |
| ENST00000395445.5:c.4388+3902_4388+3903insGATGTTTTTAAGTATTTTT | ENSP00000378832.2:n.4388+3902_4388+3903insGATGTTTTTAAGTATTTTT... | |
| ENST00000395446.5:c.2092-13945_2092-13944insGATGTTTTTAAGTATTTTT | ENSP00000378833.1:n.2092-13945_2092-13944insGATGTTTTTAAGTATTT... | |
| ENST00000409834.5:c.3206+1645_3206+1646insGATGTTTTTAAGTATTTTT | ENSP00000386693.1:n.3206+1645_3206+1646insGATGTTTTTAAGTATTTTT... | |
| ENST00000414367.5:c.*447+3902_*447+3903insGATGTTTTTAAGTATTTTT | ENSP00000412531.1:n.*447+3902_*447+3903insGATGTTTTTAAGTATTTTT... | |
| ENST00000414778.5:c.4370+3902_4370+3903insGATGTTTTTAAGTATTTTT | ENSP00000410304.2:n.4370+3902_4370+3903insGATGTTTTTAAGTATTTTT... | |
| ENST00000437009.5:c.4161-133_4161-132insGATGTTTTTAAGTATTTTT | ENSP00000412628.2:n.4161-133_4161-132insGATGTTTTTAAGTATTTTT | |
| ENST00000448885.5:c.*2329-133_*2329-132insGATGTTTTTAAGTATTTTT | ENSP00000412320.1:n.*2329-133_*2329-132insGATGTTTTTAAGTATTTTT... | |
| ENST00000463095.2:n.1387-133_1387-132insGATGTTTTTAAGTATTTTT | ||
| ENST00000495484.5:c.462-5478_462-5477insGATGTTTTTAAGTATTTTT | ENSP00000480780.1:n.462-5478_462-5477insGATGTTTTTAAGTATTTTT | |
| ENST00000612394.4:c.4406+3902_4406+3903insGATGTTTTTAAGTATTTTT | ENSP00000482921.1:n.4406+3902_4406+3903insGATGTTTTTAAGTATTTTT... | |
| ENST00000613657.4:c.4409+1645_4409+1646insGATGTTTTTAAGTATTTTT | ENSP00000482794.1:n.4409+1645_4409+1646insGATGTTTTTAAGTATTTTT... | |
| ENST00000614895.4:c.4385+3902_4385+3903insGATGTTTTTAAGTATTTTT | ENSP00000478512.1:n.4385+3902_4385+3903insGATGTTTTTAAGTATTTTT... | |
| ENST00000616114.4:c.4367+3902_4367+3903insGATGTTTTTAAGTATTTTT | ENSP00000483745.1:n.4367+3902_4367+3903insGATGTTTTTAAGTATTTTT... | |
| ENST00000617051.4:c.4386-124_4386-123insGATGTTTTTAAGTATTTTT | ENSP00000484703.1:n.4386-124_4386-123insGATGTTTTTAAGTATTTTT | |
| ENST00000617271.4:c.4373+1645_4373+1646insGATGTTTTTAAGTATTTTT | ENSP00000478076.1:n.4373+1645_4373+1646insGATGTTTTTAAGTATTTTT... | |
| ENST00000618301.4:c.593+3902_593+3903insGATGTTTTTAAGTATTTTT | ENSP00000482780.1:n.593+3902_593+3903insGATGTTTTTAAGTATTTTT | |
| ENST00000621708.4:c.4388+1645_4388+1646insGATGTTTTTAAGTATTTTT | ENSP00000484454.1:n.4388+1645_4388+1646insGATGTTTTTAAGTATTTTT... | |
| ENST00000622048.4:c.4158-124_4158-123insGATGTTTTTAAGTATTTTT | ENSP00000482329.1:n.4158-124_4158-123insGATGTTTTTAAGTATTTTT | |
| NM_001142763.1:c.4389-133_4389-132insGATGTTTTTAAGTATTTTT | NP_001136235.1:n.4389-133_4389-132insGATGTTTTTAAGTATTTTT | |
| NM_001142764.1:c.4374-133_4374-132insGATGTTTTTAAGTATTTTT | NP_001136236.1:n.4374-133_4374-132insGATGTTTTTAAGTATTTTT | |
| NM_001142765.1:c.4161-133_4161-132insGATGTTTTTAAGTATTTTT | NP_001136237.1:n.4161-133_4161-132insGATGTTTTTAAGTATTTTT | |
| NM_001142766.1:c.4359-133_4359-132insGATGTTTTTAAGTATTTTT | NP_001136238.1:n.4359-133_4359-132insGATGTTTTTAAGTATTTTT | |
| NM_001142767.1:c.4248-133_4248-132insGATGTTTTTAAGTATTTTT | NP_001136239.1:n.4248-133_4248-132insGATGTTTTTAAGTATTTTT | |
| NM_001142768.1:c.4308-133_4308-132insGATGTTTTTAAGTATTTTT | NP_001136240.1:n.4308-133_4308-132insGATGTTTTTAAGTATTTTT | |
| NM_001142769.1:c.4409+1645_4409+1646insGATGTTTTTAAGTATTTTT | NP_001136241.1:n.4409+1645_4409+1646insGATGTTTTTAAGTATTTTT | |
| NM_001142770.1:c.4373+1645_4373+1646insGATGTTTTTAAGTATTTTT | NP_001136242.1:n.4373+1645_4373+1646insGATGTTTTTAAGTATTTTT | |
| NM_001142771.1:c.4388+1645_4388+1646insGATGTTTTTAAGTATTTTT | NP_001136243.1:n.4388+1645_4388+1646insGATGTTTTTAAGTATTTTT | |
| NM_001142772.1:c.4373+1645_4373+1646insGATGTTTTTAAGTATTTTT | NP_001136244.1:n.4373+1645_4373+1646insGATGTTTTTAAGTATTTTT | |
| NM_001142773.1:c.4299-133_4299-132insGATGTTTTTAAGTATTTTT | NP_001136245.1:n.4299-133_4299-132insGATGTTTTTAAGTATTTTT | |
| NM_033056.3:c.4368-133_4368-132insGATGTTTTTAAGTATTTTT | NP_149045.3:n.4368-133_4368-132insGATGTTTTTAAGTATTTTT | |
| NM_001142769.2:c.4409+1645_4409+1646insGATGTTTTTAAGTATTTTT | NP_001136241.1:n.4409+1645_4409+1646insGATGTTTTTAAGTATTTTT | |
| NM_001142770.2:c.4373+1645_4373+1646insGATGTTTTTAAGTATTTTT | NP_001136242.1:n.4373+1645_4373+1646insGATGTTTTTAAGTATTTTT | |
| NM_001354404.1:c.4302-133_4302-132insGATGTTTTTAAGTATTTTT | NP_001341333.1:n.4302-133_4302-132insGATGTTTTTAAGTATTTTT | |
| NM_001354411.1:c.4388+3902_4388+3903insGATGTTTTTAAGTATTTTT | NP_001341340.1:n.4388+3902_4388+3903insGATGTTTTTAAGTATTTTT | |
| NM_001354420.1:c.4367+3902_4367+3903insGATGTTTTTAAGTATTTTT | NP_001341349.1:n.4367+3902_4367+3903insGATGTTTTTAAGTATTTTT | |
| NM_001354429.1:c.4367+3902_4367+3903insGATGTTTTTAAGTATTTTT | NP_001341358.1:n.4367+3902_4367+3903insGATGTTTTTAAGTATTTTT | |
| XM_017016573.2:c.4388+1645_4388+1646insGATGTTTTTAAGTATTTTT | XP_016872062.1:n.4388+1645_4388+1646insGATGTTTTTAAGTATTTTT | |
| XR_001747192.2:n.5381-133_5381-132insGATGTTTTTAAGTATTTTT | ||
| XR_001747193.2:n.5372-133_5372-132insGATGTTTTTAAGTATTTTT | ||
| NM_001142763.2:c.4389-133_4389-132insGATGTTTTTAAGTATTTTT | NP_001136235.1:n.4389-133_4389-132insGATGTTTTTAAGTATTTTT | |
| NM_001142764.2:c.4374-133_4374-132insGATGTTTTTAAGTATTTTT | NP_001136236.1:n.4374-133_4374-132insGATGTTTTTAAGTATTTTT | |
| NM_001142765.2:c.4161-133_4161-132insGATGTTTTTAAGTATTTTT | NP_001136237.1:n.4161-133_4161-132insGATGTTTTTAAGTATTTTT | |
| NM_001142766.2:c.4359-133_4359-132insGATGTTTTTAAGTATTTTT | NP_001136238.1:n.4359-133_4359-132insGATGTTTTTAAGTATTTTT | |
| NM_001142768.2:c.4308-133_4308-132insGATGTTTTTAAGTATTTTT | NP_001136240.1:n.4308-133_4308-132insGATGTTTTTAAGTATTTTT | |
| NM_001142769.3:c.4409+1645_4409+1646insGATGTTTTTAAGTATTTTT | NP_001136241.1:n.4409+1645_4409+1646insGATGTTTTTAAGTATTTTT | |
| NM_001142770.3:c.4373+1645_4373+1646insGATGTTTTTAAGTATTTTT | NP_001136242.1:n.4373+1645_4373+1646insGATGTTTTTAAGTATTTTT | |
| NM_001142771.2:c.4388+1645_4388+1646insGATGTTTTTAAGTATTTTT | NP_001136243.1:n.4388+1645_4388+1646insGATGTTTTTAAGTATTTTT | |
| NM_001142772.2:c.4373+1645_4373+1646insGATGTTTTTAAGTATTTTT | NP_001136244.1:n.4373+1645_4373+1646insGATGTTTTTAAGTATTTTT | |
| NM_001142773.2:c.4299-133_4299-132insGATGTTTTTAAGTATTTTT | NP_001136245.1:n.4299-133_4299-132insGATGTTTTTAAGTATTTTT | |
| NM_001354411.2:c.4388+3902_4388+3903insGATGTTTTTAAGTATTTTT | NP_001341340.1:n.4388+3902_4388+3903insGATGTTTTTAAGTATTTTT | |
| NM_001354420.2:c.4367+3902_4367+3903insGATGTTTTTAAGTATTTTT | NP_001341349.1:n.4367+3902_4367+3903insGATGTTTTTAAGTATTTTT | |
| NM_001354429.2:c.4367+3902_4367+3903insGATGTTTTTAAGTATTTTT | NP_001341358.1:n.4367+3902_4367+3903insGATGTTTTTAAGTATTTTT | |
| NM_033056.4:c.4368-133_4368-132insGATGTTTTTAAGTATTTTT MANE Plus Clinical | NP_149045.3:n.4368-133_4368-132insGATGTTTTTAAGTATTTTT | |
| NM_001142767.2:c.4248-133_4248-132insGATGTTTTTAAGTATTTTT | NP_001136239.1:n.4248-133_4248-132insGATGTTTTTAAGTATTTTT | |
| NM_001354404.2:c.4302-133_4302-132insGATGTTTTTAAGTATTTTT | NP_001341333.1:n.4302-133_4302-132insGATGTTTTTAAGTATTTTT | |
| NM_001384140.1:c.4368-3261_4368-3260insGATGTTTTTAAGTATTTTT MANE Select | NP_001371069.1:n.4368-3261_4368-3260insGATGTTTTTAAGTATTTTT |