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
dbSNP Id:
rs2108781517
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.130980681_130980682insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA , CM000665.2:g.130980681_130980682insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | GRCh38 |
| NC_000003.11:g.130699525_130699526insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA , CM000665.1:g.130699525_130699526insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | GRCh37 |
| NC_000003.10:g.132182215_132182216insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | NCBI36 |
| NG_007379.1:g.91092_91093insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | |
| NG_007379.2:g.135157_135158insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000510168.6:c.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA MANE Select | ENSP00000427461.1:n.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCA... | |
| ENST00000328560.12:c.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | ENSP00000329664.8:n.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCA... | |
| ENST00000359644.7:c.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | ENSP00000352665.3:n.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCA... | |
| ENST00000422190.6:c.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | ENSP00000402677.2:n.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCA... | |
| ENST00000428331.6:c.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | ENSP00000395809.2:n.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCA... | |
| ENST00000504381.5:c.1824+2_1824+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | ENSP00000425320.2:n.1824+2_1824+3insTGCAGTATTTTACAGAGCTAGCCCA... | |
| ENST00000504571.5:c.631+5193_631+5194insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | ENSP00000422489.1:n.631+5193_631+5194insTGCAGTATTTTACAGAGCTAG... | |
| ENST00000504612.5:c.1700+2_1700+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | ||
| ENST00000504948.5:c.1791+2_1791+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | ENSP00000423330.1:n.1791+2_1791+3insTGCAGTATTTTACAGAGCTAGCCCA... | |
| ENST00000505330.5:c.1941+2_1941+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | ENSP00000423774.2:n.1941+2_1941+3insTGCAGTATTTTACAGAGCTAGCCCA... | |
| ENST00000507488.6:c.1941+2_1941+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | ENSP00000421326.3:n.1941+2_1941+3insTGCAGTATTTTACAGAGCTAGCCCA... | |
| ENST00000508532.5:c.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | ENSP00000424783.1:n.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCA... | |
| ENST00000508660.5:c.392+2_392+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | ||
| ENST00000510168.5:c.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | ENSP00000427461.1:n.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCA... | |
| ENST00000510774.1:n.110+2_110+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | ||
| ENST00000513801.5:c.1791+2_1791+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | ENSP00000422872.1:n.1791+2_1791+3insTGCAGTATTTTACAGAGCTAGCCCA... | |
| ENST00000514654.5:n.2009+2_2009+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | ||
| ENST00000533801.6:c.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | ENSP00000432956.3:n.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCA... | |
| NM_001001485.2:c.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | NP_001001485.1:n.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGG... | |
| NM_001001486.1:c.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | NP_001001486.1:n.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGG... | |
| NM_001001487.1:c.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | NP_001001487.1:n.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGG... | |
| NM_001199179.1:c.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | NP_001186108.1:n.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGG... | |
| NM_001199180.1:c.1941+2_1941+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | NP_001186109.1:n.1941+2_1941+3insTGCAGTATTTTACAGAGCTAGCCCAAGG... | |
| NM_001199181.1:c.1941+2_1941+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | NP_001186110.1:n.1941+2_1941+3insTGCAGTATTTTACAGAGCTAGCCCAAGG... | |
| NM_001199182.1:c.1824+2_1824+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | NP_001186111.1:n.1824+2_1824+3insTGCAGTATTTTACAGAGCTAGCCCAAGG... | |
| NM_001199183.1:c.1791+2_1791+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | NP_001186112.1:n.1791+2_1791+3insTGCAGTATTTTACAGAGCTAGCCCAAGG... | |
| NM_001199184.1:c.1791+2_1791+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | NP_001186113.1:n.1791+2_1791+3insTGCAGTATTTTACAGAGCTAGCCCAAGG... | |
| NM_001199185.1:c.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | NP_001186114.1:n.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGG... | |
| NM_014382.3:c.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | NP_055197.2:n.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCAC... | |
| XM_005247354.1:c.1941+2_1941+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | XP_005247411.1:n.1941+2_1941+3insTGCAGTATTTTACAGAGCTAGCCCAAGG... | |
| XM_005247355.1:c.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | XP_005247412.1:n.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGG... | |
| XM_005247356.1:c.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | XP_005247413.1:n.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGG... | |
| XM_005247357.1:c.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | XP_005247414.1:n.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGG... | |
| XM_005247358.1:c.1791+2_1791+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | XP_005247415.1:n.1791+2_1791+3insTGCAGTATTTTACAGAGCTAGCCCAAGG... | |
| XM_006713585.1:c.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | XP_006713648.1:n.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGG... | |
| XM_011512685.1:c.1770+2_1770+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | XP_011510987.1:n.1770+2_1770+3insTGCAGTATTTTACAGAGCTAGCCCAAGG... | |
| XM_011512686.1:c.1005+2_1005+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | XP_011510988.1:n.1005+2_1005+3insTGCAGTATTTTACAGAGCTAGCCCAAGG... | |
| XM_011512687.1:c.1672+5193_1672+5194insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | XP_011510989.1:n.1672+5193_1672+5194insTGCAGTATTTTACAGAGCTAGC... | |
| XM_005247354.2:c.1941+2_1941+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | XP_005247411.1:n.1941+2_1941+3insTGCAGTATTTTACAGAGCTAGCCCAAGG... | |
| XM_005247355.2:c.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | XP_005247412.1:n.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGG... | |
| XM_005247356.3:c.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | XP_005247413.1:n.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGG... | |
| XM_005247358.3:c.1791+2_1791+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | XP_005247415.1:n.1791+2_1791+3insTGCAGTATTTTACAGAGCTAGCCCAAGG... | |
| XM_011512686.2:c.1005+2_1005+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | XP_011510988.1:n.1005+2_1005+3insTGCAGTATTTTACAGAGCTAGCCCAAGG... | |
| XM_017006164.2:c.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | XP_016861653.1:n.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGG... | |
| NM_001199179.2:c.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | NP_001186108.1:n.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGG... | |
| NM_001199180.2:c.1941+2_1941+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | NP_001186109.1:n.1941+2_1941+3insTGCAGTATTTTACAGAGCTAGCCCAAGG... | |
| NM_001199181.2:c.1941+2_1941+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | NP_001186110.1:n.1941+2_1941+3insTGCAGTATTTTACAGAGCTAGCCCAAGG... | |
| NM_001199182.2:c.1824+2_1824+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | NP_001186111.1:n.1824+2_1824+3insTGCAGTATTTTACAGAGCTAGCCCAAGG... | |
| NM_001199183.2:c.1791+2_1791+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | NP_001186112.1:n.1791+2_1791+3insTGCAGTATTTTACAGAGCTAGCCCAAGG... | |
| NM_001199184.2:c.1791+2_1791+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | NP_001186113.1:n.1791+2_1791+3insTGCAGTATTTTACAGAGCTAGCCCAAGG... | |
| NM_001199185.2:c.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | NP_001186114.1:n.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGG... | |
| NM_014382.4:c.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | NP_055197.2:n.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCAC... | |
| NM_001001485.3:c.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | NP_001001485.1:n.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGG... | |
| NM_001001486.2:c.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | NP_001001486.1:n.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGG... | |
| NM_001001487.2:c.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | NP_001001487.1:n.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGG... | |
| NM_001199179.3:c.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | NP_001186108.1:n.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGG... | |
| NM_001199181.3:c.1941+2_1941+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | NP_001186110.1:n.1941+2_1941+3insTGCAGTATTTTACAGAGCTAGCCCAAGG... | |
| NM_001199184.3:c.1791+2_1791+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | NP_001186113.1:n.1791+2_1791+3insTGCAGTATTTTACAGAGCTAGCCCAAGG... | |
| NM_001378511.1:c.1941+2_1941+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | NP_001365440.1:n.1941+2_1941+3insTGCAGTATTTTACAGAGCTAGCCCAAGG... | |
| NM_001378512.1:c.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | NP_001365441.1:n.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGG... | |
| NM_001378513.1:c.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | NP_001365442.1:n.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGG... | |
| NM_001378514.1:c.1791+2_1791+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | NP_001365443.1:n.1791+2_1791+3insTGCAGTATTTTACAGAGCTAGCCCAAGG... | |
| NM_001378687.1:c.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA MANE Select | NP_001365616.1:n.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGG... | |
| NM_014382.5:c.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCACAAGATGAA | NP_055197.2:n.1839+2_1839+3insTGCAGTATTTTACAGAGCTAGCCCAAGGCAC... |