SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.
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.
This migration is underway but taking longer than originally estimated.
Linked Data
gnomAD v4:
8-95025206-G-GAAACGGGATTATGAAGGTTATTTA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.95025206_95025207insAAACGGGATTATGAAGGTTATTTA , CM000670.2:g.95025206_95025207insAAACGGGATTATGAAGGTTATTTA | GRCh38 |
| NC_000008.10:g.96037434_96037435insAAACGGGATTATGAAGGTTATTTA , CM000670.1:g.96037434_96037435insAAACGGGATTATGAAGGTTATTTA | GRCh37 |
| NC_000008.9:g.96106610_96106611insAAACGGGATTATGAAGGTTATTTA | NCBI36 |
| NG_016647.1:g.5214_5215insAAACGGGATTATGAAGGTTATTTA | |
| NG_016647.2:g.134936_134937insAAACGGGATTATGAAGGTTATTTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000519804.2:c.197+1_197+2insAAACGGGATTATGAAGGTTATTTA | ENSP00000430230.2:n.197+1_197+2insAAACGGGATTATGAAGGTTATTTA | |
| ENST00000697355.1:c.-83-6789_-83-6788insAAACGGGATTATGAAGGTTATTTA | ENSP00000513277.1:n.-83-6789_-83-6788insAAACGGGATTATGAAGGTTAT... | |
| ENST00000697364.1:c.-83-6789_-83-6788insAAACGGGATTATGAAGGTTATTTA | ENSP00000513278.1:n.-83-6789_-83-6788insAAACGGGATTATGAAGGTTAT... | |
| ENST00000396124.9:c.197+1_197+2insAAACGGGATTATGAAGGTTATTTA MANE Select | ENSP00000379430.4:n.197+1_197+2insAAACGGGATTATGAAGGTTATTTA | |
| ENST00000396111.6:c.-83-6789_-83-6788insAAACGGGATTATGAAGGTTATTTA | ENSP00000379417.1:n.-83-6789_-83-6788insAAACGGGATTATGAAGGTTAT... | |
| ENST00000396113.5:c.-84+1887_-84+1888insAAACGGGATTATGAAGGTTATTTA | ENSP00000379419.1:n.-84+1887_-84+1888insAAACGGGATTATGAAGGTTAT... | |
| ENST00000396124.8:c.197+1_197+2insAAACGGGATTATGAAGGTTATTTA | ENSP00000379430.4:n.197+1_197+2insAAACGGGATTATGAAGGTTATTTA | |
| ENST00000454358.6:c.138+1_138+2insAAACGGGATTATGAAGGTTATTTA | ||
| ENST00000517976.5:c.185+1_185+2insAAACGGGATTATGAAGGTTATTTA | ENSP00000430099.1:n.185+1_185+2insAAACGGGATTATGAAGGTTATTTA | |
| ENST00000518258.5:c.197+1_197+2insAAACGGGATTATGAAGGTTATTTA | ENSP00000428788.1:n.197+1_197+2insAAACGGGATTATGAAGGTTATTTA | |
| ENST00000518608.5:c.138+1_138+2insAAACGGGATTATGAAGGTTATTTA | ||
| ENST00000519136.5:c.-255-6789_-255-6788insAAACGGGATTATGAAGGTTATTTA | ENSP00000429585.1:n.-255-6789_-255-6788insAAACGGGATTATGAAGGTT... | |
| ENST00000520632.5:c.173+1_173+2insAAACGGGATTATGAAGGTTATTTA | ENSP00000428666.1:n.173+1_173+2insAAACGGGATTATGAAGGTTATTTA | |
| ENST00000520757.1:c.138+1_138+2insAAACGGGATTATGAAGGTTATTTA | ||
| ENST00000522683.5:c.140+1_140+2insAAACGGGATTATGAAGGTTATTTA | ENSP00000430991.1:n.140+1_140+2insAAACGGGATTATGAAGGTTATTTA | |
| ENST00000523337.5:c.197+1_197+2insAAACGGGATTATGAAGGTTATTTA | ENSP00000429038.1:n.197+1_197+2insAAACGGGATTATGAAGGTTATTTA | |
| ENST00000523378.5:c.-83-6789_-83-6788insAAACGGGATTATGAAGGTTATTTA | ENSP00000428034.1:n.-83-6789_-83-6788insAAACGGGATTATGAAGGTTAT... | |
| NM_152416.3:c.197+1_197+2insAAACGGGATTATGAAGGTTATTTA | NP_689629.2:n.197+1_197+2insAAACGGGATTATGAAGGTTATTTA | |
| XM_005250789.1:c.-84+1_-84+2insAAACGGGATTATGAAGGTTATTTA | XP_005250846.1:n.-84+1_-84+2insAAACGGGATTATGAAGGTTATTTA | |
| XM_005250790.1:c.-256+1_-256+2insAAACGGGATTATGAAGGTTATTTA | XP_005250847.1:n.-256+1_-256+2insAAACGGGATTATGAAGGTTATTTA | |
| XM_005250791.1:c.-384+1_-384+2insAAACGGGATTATGAAGGTTATTTA | XP_005250848.1:n.-384+1_-384+2insAAACGGGATTATGAAGGTTATTTA | |
| XM_005250792.1:c.-388+1_-388+2insAAACGGGATTATGAAGGTTATTTA | XP_005250849.1:n.-388+1_-388+2insAAACGGGATTATGAAGGTTATTTA | |
| XM_005250793.1:c.-457+1_-457+2insAAACGGGATTATGAAGGTTATTTA | XP_005250850.1:n.-457+1_-457+2insAAACGGGATTATGAAGGTTATTTA | |
| XM_011516833.1:c.42-6789_42-6788insAAACGGGATTATGAAGGTTATTTA | XP_011515135.1:n.42-6789_42-6788insAAACGGGATTATGAAGGTTATTTA | |
| XM_011516834.1:c.42-6789_42-6788insAAACGGGATTATGAAGGTTATTTA | XP_011515136.1:n.42-6789_42-6788insAAACGGGATTATGAAGGTTATTTA | |
| XM_011516835.1:c.42-6789_42-6788insAAACGGGATTATGAAGGTTATTTA | XP_011515137.1:n.42-6789_42-6788insAAACGGGATTATGAAGGTTATTTA | |
| XM_011516836.1:c.42-6789_42-6788insAAACGGGATTATGAAGGTTATTTA | XP_011515138.1:n.42-6789_42-6788insAAACGGGATTATGAAGGTTATTTA | |
| XM_011516837.1:c.42-6789_42-6788insAAACGGGATTATGAAGGTTATTTA | XP_011515139.1:n.42-6789_42-6788insAAACGGGATTATGAAGGTTATTTA | |
| XM_011516838.1:c.42-6789_42-6788insAAACGGGATTATGAAGGTTATTTA | XP_011515140.1:n.42-6789_42-6788insAAACGGGATTATGAAGGTTATTTA | |
| XM_011516839.1:c.42-6789_42-6788insAAACGGGATTATGAAGGTTATTTA | XP_011515141.1:n.42-6789_42-6788insAAACGGGATTATGAAGGTTATTTA | |
| XM_011516840.1:c.42-6789_42-6788insAAACGGGATTATGAAGGTTATTTA | XP_011515142.1:n.42-6789_42-6788insAAACGGGATTATGAAGGTTATTTA | |
| XM_011516841.1:c.42-6789_42-6788insAAACGGGATTATGAAGGTTATTTA | XP_011515143.1:n.42-6789_42-6788insAAACGGGATTATGAAGGTTATTTA | |
| XM_011516842.1:c.42-6789_42-6788insAAACGGGATTATGAAGGTTATTTA | XP_011515144.1:n.42-6789_42-6788insAAACGGGATTATGAAGGTTATTTA | |
| XM_011516843.1:c.-84+1887_-84+1888insAAACGGGATTATGAAGGTTATTTA | XP_011515145.1:n.-84+1887_-84+1888insAAACGGGATTATGAAGGTTATTTA... | |
| NM_001330582.1:c.-84+1_-84+2insAAACGGGATTATGAAGGTTATTTA | NP_001317511.1:n.-84+1_-84+2insAAACGGGATTATGAAGGTTATTTA | |
| NM_001354514.1:c.-83-6789_-83-6788insAAACGGGATTATGAAGGTTATTTA | NP_001341443.1:n.-83-6789_-83-6788insAAACGGGATTATGAAGGTTATTTA... | |
| NM_001354515.1:c.-83-6789_-83-6788insAAACGGGATTATGAAGGTTATTTA | NP_001341444.1:n.-83-6789_-83-6788insAAACGGGATTATGAAGGTTATTTA... | |
| NM_001354516.1:c.42-6789_42-6788insAAACGGGATTATGAAGGTTATTTA | NP_001341445.1:n.42-6789_42-6788insAAACGGGATTATGAAGGTTATTTA | |
| NM_001354517.1:c.-37+1_-37+2insAAACGGGATTATGAAGGTTATTTA | NP_001341446.1:n.-37+1_-37+2insAAACGGGATTATGAAGGTTATTTA | |
| NM_001354518.1:c.-256+1_-256+2insAAACGGGATTATGAAGGTTATTTA | NP_001341447.1:n.-256+1_-256+2insAAACGGGATTATGAAGGTTATTTA | |
| NM_001354519.1:c.-252+1_-252+2insAAACGGGATTATGAAGGTTATTTA | NP_001341448.1:n.-252+1_-252+2insAAACGGGATTATGAAGGTTATTTA | |
| NM_001354521.1:c.-84+1_-84+2insAAACGGGATTATGAAGGTTATTTA | NP_001341450.1:n.-84+1_-84+2insAAACGGGATTATGAAGGTTATTTA | |
| NM_001354522.1:c.-383-6789_-383-6788insAAACGGGATTATGAAGGTTATTTA | NP_001341451.1:n.-383-6789_-383-6788insAAACGGGATTATGAAGGTTATT... | |
| NM_001354524.1:c.-456-6789_-456-6788insAAACGGGATTATGAAGGTTATTTA | NP_001341453.1:n.-456-6789_-456-6788insAAACGGGATTATGAAGGTTATT... | |
| NM_001354525.1:c.-456-6789_-456-6788insAAACGGGATTATGAAGGTTATTTA | NP_001341454.1:n.-456-6789_-456-6788insAAACGGGATTATGAAGGTTATT... | |
| NM_001354527.1:c.-601+1_-601+2insAAACGGGATTATGAAGGTTATTTA | NP_001341456.1:n.-601+1_-601+2insAAACGGGATTATGAAGGTTATTTA | |
| NM_001354528.1:c.-572+1_-572+2insAAACGGGATTATGAAGGTTATTTA | NP_001341457.1:n.-572+1_-572+2insAAACGGGATTATGAAGGTTATTTA | |
| NM_001354529.1:c.-384+1_-384+2insAAACGGGATTATGAAGGTTATTTA | NP_001341458.1:n.-384+1_-384+2insAAACGGGATTATGAAGGTTATTTA | |
| NM_001354530.1:c.-486+1_-486+2insAAACGGGATTATGAAGGTTATTTA | NP_001341459.1:n.-486+1_-486+2insAAACGGGATTATGAAGGTTATTTA | |
| NM_001354531.1:c.-482+1_-482+2insAAACGGGATTATGAAGGTTATTTA | NP_001341460.1:n.-482+1_-482+2insAAACGGGATTATGAAGGTTATTTA | |
| NM_001354532.1:c.-490+1_-490+2insAAACGGGATTATGAAGGTTATTTA | NP_001341461.1:n.-490+1_-490+2insAAACGGGATTATGAAGGTTATTTA | |
| NM_001354533.1:c.-453+1_-453+2insAAACGGGATTATGAAGGTTATTTA | NP_001341462.1:n.-453+1_-453+2insAAACGGGATTATGAAGGTTATTTA | |
| NM_001354534.1:c.-136-6789_-136-6788insAAACGGGATTATGAAGGTTATTTA | NP_001341463.1:n.-136-6789_-136-6788insAAACGGGATTATGAAGGTTATT... | |
| NR_148910.1:n.231+1_231+2insAAACGGGATTATGAAGGTTATTTA | ||
| NR_148911.1:n.231+1_231+2insAAACGGGATTATGAAGGTTATTTA | ||
| NR_148912.1:n.231+1_231+2insAAACGGGATTATGAAGGTTATTTA | ||
| NR_148913.1:n.231+1_231+2insAAACGGGATTATGAAGGTTATTTA | ||
| NR_148914.1:n.231+1_231+2insAAACGGGATTATGAAGGTTATTTA | ||
| NR_148915.1:n.231+1_231+2insAAACGGGATTATGAAGGTTATTTA | ||
| XM_005250792.2:c.-388+1_-388+2insAAACGGGATTATGAAGGTTATTTA | XP_005250849.1:n.-388+1_-388+2insAAACGGGATTATGAAGGTTATTTA | |
| XM_005250793.3:c.-457+1_-457+2insAAACGGGATTATGAAGGTTATTTA | XP_005250850.1:n.-457+1_-457+2insAAACGGGATTATGAAGGTTATTTA | |
| XM_011516833.2:c.42-6789_42-6788insAAACGGGATTATGAAGGTTATTTA | XP_011515135.1:n.42-6789_42-6788insAAACGGGATTATGAAGGTTATTTA | |
| XM_011516834.2:c.42-6789_42-6788insAAACGGGATTATGAAGGTTATTTA | XP_011515136.1:n.42-6789_42-6788insAAACGGGATTATGAAGGTTATTTA | |
| XM_011516835.2:c.42-6789_42-6788insAAACGGGATTATGAAGGTTATTTA | XP_011515137.1:n.42-6789_42-6788insAAACGGGATTATGAAGGTTATTTA | |
| XM_011516836.2:c.42-6789_42-6788insAAACGGGATTATGAAGGTTATTTA | XP_011515138.1:n.42-6789_42-6788insAAACGGGATTATGAAGGTTATTTA | |
| XM_011516837.2:c.42-6789_42-6788insAAACGGGATTATGAAGGTTATTTA | XP_011515139.1:n.42-6789_42-6788insAAACGGGATTATGAAGGTTATTTA | |
| XM_011516838.2:c.42-6789_42-6788insAAACGGGATTATGAAGGTTATTTA | XP_011515140.1:n.42-6789_42-6788insAAACGGGATTATGAAGGTTATTTA | |
| XM_011516839.2:c.42-6789_42-6788insAAACGGGATTATGAAGGTTATTTA | XP_011515141.1:n.42-6789_42-6788insAAACGGGATTATGAAGGTTATTTA | |
| XM_011516840.2:c.42-6789_42-6788insAAACGGGATTATGAAGGTTATTTA | XP_011515142.1:n.42-6789_42-6788insAAACGGGATTATGAAGGTTATTTA | |
| XM_011516841.2:c.42-6789_42-6788insAAACGGGATTATGAAGGTTATTTA | XP_011515143.1:n.42-6789_42-6788insAAACGGGATTATGAAGGTTATTTA | |
| XM_011516842.2:c.42-6789_42-6788insAAACGGGATTATGAAGGTTATTTA | XP_011515144.1:n.42-6789_42-6788insAAACGGGATTATGAAGGTTATTTA | |
| XM_017013027.2:c.42-6789_42-6788insAAACGGGATTATGAAGGTTATTTA | XP_016868516.1:n.42-6789_42-6788insAAACGGGATTATGAAGGTTATTTA | |
| XM_017013028.1:c.42-6789_42-6788insAAACGGGATTATGAAGGTTATTTA | XP_016868517.1:n.42-6789_42-6788insAAACGGGATTATGAAGGTTATTTA | |
| XM_017013029.1:c.42-6789_42-6788insAAACGGGATTATGAAGGTTATTTA | XP_016868518.1:n.42-6789_42-6788insAAACGGGATTATGAAGGTTATTTA | |
| XM_017013033.2:c.-84+1887_-84+1888insAAACGGGATTATGAAGGTTATTTA | XP_016868522.1:n.-84+1887_-84+1888insAAACGGGATTATGAAGGTTATTTA... | |
| XM_024447062.1:c.-136-6789_-136-6788insAAACGGGATTATGAAGGTTATTTA | XP_024302830.1:n.-136-6789_-136-6788insAAACGGGATTATGAAGGTTATT... | |
| NM_152416.4:c.197+1_197+2insAAACGGGATTATGAAGGTTATTTA MANE Select | NP_689629.2:n.197+1_197+2insAAACGGGATTATGAAGGTTATTTA | |
| NR_148913.2:n.217+1_217+2insAAACGGGATTATGAAGGTTATTTA | ||
| NR_148914.2:n.217+1_217+2insAAACGGGATTATGAAGGTTATTTA | ||
| NM_001330582.2:c.-84+1_-84+2insAAACGGGATTATGAAGGTTATTTA | NP_001317511.1:n.-84+1_-84+2insAAACGGGATTATGAAGGTTATTTA | |
| NM_001354514.2:c.-83-6789_-83-6788insAAACGGGATTATGAAGGTTATTTA | NP_001341443.1:n.-83-6789_-83-6788insAAACGGGATTATGAAGGTTATTTA... | |
| NM_001354515.2:c.-83-6789_-83-6788insAAACGGGATTATGAAGGTTATTTA | NP_001341444.1:n.-83-6789_-83-6788insAAACGGGATTATGAAGGTTATTTA... | |
| NM_001354516.2:c.42-6789_42-6788insAAACGGGATTATGAAGGTTATTTA | NP_001341445.1:n.42-6789_42-6788insAAACGGGATTATGAAGGTTATTTA | |
| NM_001354517.2:c.-37+1_-37+2insAAACGGGATTATGAAGGTTATTTA | NP_001341446.1:n.-37+1_-37+2insAAACGGGATTATGAAGGTTATTTA | |
| NM_001354518.2:c.-256+1_-256+2insAAACGGGATTATGAAGGTTATTTA | NP_001341447.1:n.-256+1_-256+2insAAACGGGATTATGAAGGTTATTTA | |
| NM_001354519.2:c.-252+1_-252+2insAAACGGGATTATGAAGGTTATTTA | NP_001341448.1:n.-252+1_-252+2insAAACGGGATTATGAAGGTTATTTA | |
| NM_001354521.2:c.-84+1_-84+2insAAACGGGATTATGAAGGTTATTTA | NP_001341450.1:n.-84+1_-84+2insAAACGGGATTATGAAGGTTATTTA | |
| NM_001354522.2:c.-383-6789_-383-6788insAAACGGGATTATGAAGGTTATTTA | NP_001341451.1:n.-383-6789_-383-6788insAAACGGGATTATGAAGGTTATT... | |
| NM_001354524.2:c.-456-6789_-456-6788insAAACGGGATTATGAAGGTTATTTA | NP_001341453.1:n.-456-6789_-456-6788insAAACGGGATTATGAAGGTTATT... | |
| NM_001354525.2:c.-456-6789_-456-6788insAAACGGGATTATGAAGGTTATTTA | NP_001341454.1:n.-456-6789_-456-6788insAAACGGGATTATGAAGGTTATT... | |
| NM_001354527.2:c.-601+1_-601+2insAAACGGGATTATGAAGGTTATTTA | NP_001341456.1:n.-601+1_-601+2insAAACGGGATTATGAAGGTTATTTA | |
| NM_001354528.2:c.-572+1_-572+2insAAACGGGATTATGAAGGTTATTTA | NP_001341457.1:n.-572+1_-572+2insAAACGGGATTATGAAGGTTATTTA | |
| NM_001354529.2:c.-384+1_-384+2insAAACGGGATTATGAAGGTTATTTA | NP_001341458.1:n.-384+1_-384+2insAAACGGGATTATGAAGGTTATTTA | |
| NM_001354530.2:c.-486+1_-486+2insAAACGGGATTATGAAGGTTATTTA | NP_001341459.1:n.-486+1_-486+2insAAACGGGATTATGAAGGTTATTTA | |
| NM_001354531.2:c.-482+1_-482+2insAAACGGGATTATGAAGGTTATTTA | NP_001341460.1:n.-482+1_-482+2insAAACGGGATTATGAAGGTTATTTA | |
| NM_001354532.2:c.-490+1_-490+2insAAACGGGATTATGAAGGTTATTTA | NP_001341461.1:n.-490+1_-490+2insAAACGGGATTATGAAGGTTATTTA | |
| NM_001354533.2:c.-453+1_-453+2insAAACGGGATTATGAAGGTTATTTA | NP_001341462.1:n.-453+1_-453+2insAAACGGGATTATGAAGGTTATTTA | |
| NM_001354534.2:c.-136-6789_-136-6788insAAACGGGATTATGAAGGTTATTTA | NP_001341463.1:n.-136-6789_-136-6788insAAACGGGATTATGAAGGTTATT... | |
| NR_148910.2:n.217+1_217+2insAAACGGGATTATGAAGGTTATTTA | ||
| NR_148911.2:n.217+1_217+2insAAACGGGATTATGAAGGTTATTTA | ||
| NR_148912.2:n.217+1_217+2insAAACGGGATTATGAAGGTTATTTA | ||
| NR_148915.2:n.217+1_217+2insAAACGGGATTATGAAGGTTATTTA |