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_000020.11:g.63415360_63415400delinsAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGG , CM000682.2:g.63415360_63415400delinsAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGG | GRCh38 |
| NC_000020.10:g.62046713_62046753delinsAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGG , CM000682.1:g.62046713_62046753delinsAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGG | GRCh37 |
| NC_000020.9:g.61517157_61517197delinsAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGG | NCBI36 |
| NG_009004.1:g.62241_62281delinsCCCTCCCTCCCGCCGGGTGCTCGGTCCCCGTGGCCTCCCCT | |
| NG_009004.2:g.62241_62281delinsCCCTCCCTCCCGCCGGGTGCTCGGTCCCCGTGGCCTCCCCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.1248-274_1248-234delinsCCCTCCCTCCCGCCGGGTGCTCGGTCCCCGTGGCCTCCCCT | ENSP00000516702.1:n.1248-274_1248-234delinsCCCTCCCTCCCGCCGGGT... | |
| ENST00000359125.7:c.1302-274_1302-234delinsCCCTCCCTCCCGCCGGGTGCTCGGTCCCCGTGGCCTCCCCT MANE Select | ENSP00000352035.2:n.1302-274_1302-234delinsCCCTCCCTCCCGCCGGGT... | |
| ENST00000637193.1:c.699-274_699-234delinsCCCTCCCTCCCGCCGGGTGCTCGGTCCCCGTGGCCTCCCCT | ENSP00000490734.1:n.699-274_699-234delinsCCCTCCCTCCCGCCGGGTGC... | |
| ENST00000637584.1:n.75-310_75-270delinsCCCTCCCTCCCGCCGGGTGCTCGGTCCCCGTGGCCTCCCCT | ||
| ENST00000344462.8:c.1248-310_1248-270delinsCCCTCCCTCCCGCCGGGTGCTCGGTCCCCGTGGCCTCCCCT | ENSP00000339611.4:n.1248-310_1248-270delinsCCCTCCCTCCCGCCGGGT... | |
| ENST00000357249.6:c.906-310_906-270delinsCCCTCCCTCCCGCCGGGTGCTCGGTCCCCGTGGCCTCCCCT | ENSP00000349789.3:n.906-310_906-270delinsCCCTCCCTCCCGCCGGGTGC... | |
| ENST00000359125.6:c.1302-274_1302-234delinsCCCTCCCTCCCGCCGGGTGCTCGGTCCCCGTGGCCTCCCCT | ENSP00000352035.2:n.1302-274_1302-234delinsCCCTCCCTCCCGCCGGGT... | |
| ENST00000360480.7:c.1218-274_1218-234delinsCCCTCCCTCCCGCCGGGTGCTCGGTCCCCGTGGCCTCCCCT | ENSP00000353668.3:n.1218-274_1218-234delinsCCCTCCCTCCCGCCGGGT... | |
| ENST00000370224.5:c.1218-274_1218-234delinsCCCTCCCTCCCGCCGGGTGCTCGGTCCCCGTGGCCTCCCCT | ENSP00000359244.2:n.1218-274_1218-234delinsCCCTCCCTCCCGCCGGGT... | |
| ENST00000625514.2:c.1218-310_1218-270delinsCCCTCCCTCCCGCCGGGTGCTCGGTCCCCGTGGCCTCCCCT | ENSP00000486040.1:n.1218-310_1218-270delinsCCCTCCCTCCCGCCGGGT... | |
| ENST00000626839.2:c.1248-274_1248-234delinsCCCTCCCTCCCGCCGGGTGCTCGGTCCCCGTGGCCTCCCCT | ENSP00000486706.1:n.1248-274_1248-234delinsCCCTCCCTCCCGCCGGGT... | |
| ENST00000627221.2:c.362-274_362-234delinsCCCTCCCTCCCGCCGGGTGCTCGGTCCCCGTGGCCTCCCCT | ||
| ENST00000629241.2:c.1218-274_1218-234delinsCCCTCCCTCCCGCCGGGTGCTCGGTCCCCGTGGCCTCCCCT | ENSP00000487142.1:n.1218-274_1218-234delinsCCCTCCCTCCCGCCGGGT... | |
| ENST00000629676.2:c.1218-274_1218-234delinsCCCTCCCTCCCGCCGGGTGCTCGGTCCCCGTGGCCTCCCCT | ENSP00000486194.1:n.1218-274_1218-234delinsCCCTCCCTCCCGCCGGGT... | |
| NM_004518.4:c.1218-274_1218-234delinsCCCTCCCTCCCGCCGGGTGCTCGGTCCCCGTGGCCTCCCCT | NP_004509.2:n.1218-274_1218-234delinsCCCTCCCTCCCGCCGGGTGCTCGG... | |
| NM_172106.1:c.1248-274_1248-234delinsCCCTCCCTCCCGCCGGGTGCTCGGTCCCCGTGGCCTCCCCT | NP_742104.1:n.1248-274_1248-234delinsCCCTCCCTCCCGCCGGGTGCTCGG... | |
| NM_172107.2:c.1302-274_1302-234delinsCCCTCCCTCCCGCCGGGTGCTCGGTCCCCGTGGCCTCCCCT | NP_742105.1:n.1302-274_1302-234delinsCCCTCCCTCCCGCCGGGTGCTCGG... | |
| NM_172108.3:c.1248-310_1248-270delinsCCCTCCCTCCCGCCGGGTGCTCGGTCCCCGTGGCCTCCCCT | NP_742106.1:n.1248-310_1248-270delinsCCCTCCCTCCCGCCGGGTGCTCGG... | |
| XM_006723787.1:c.1302-274_1302-234delinsCCCTCCCTCCCGCCGGGTGCTCGGTCCCCGTGGCCTCCCCT | XP_006723850.1:n.1302-274_1302-234delinsCCCTCCCTCCCGCCGGGTGCT... | |
| XM_011528807.1:c.1302-274_1302-234delinsCCCTCCCTCCCGCCGGGTGCTCGGTCCCCGTGGCCTCCCCT | XP_011527109.1:n.1302-274_1302-234delinsCCCTCCCTCCCGCCGGGTGCT... | |
| XM_011528808.1:c.1302-274_1302-234delinsCCCTCCCTCCCGCCGGGTGCTCGGTCCCCGTGGCCTCCCCT | XP_011527110.1:n.1302-274_1302-234delinsCCCTCCCTCCCGCCGGGTGCT... | |
| XM_011528809.1:c.1272-274_1272-234delinsCCCTCCCTCCCGCCGGGTGCTCGGTCCCCGTGGCCTCCCCT | XP_011527111.1:n.1272-274_1272-234delinsCCCTCCCTCCCGCCGGGTGCT... | |
| XM_011528810.1:c.1248-274_1248-234delinsCCCTCCCTCCCGCCGGGTGCTCGGTCCCCGTGGCCTCCCCT | XP_011527112.1:n.1248-274_1248-234delinsCCCTCCCTCCCGCCGGGTGCT... | |
| XM_011528811.1:c.1218-274_1218-234delinsCCCTCCCTCCCGCCGGGTGCTCGGTCCCCGTGGCCTCCCCT | XP_011527113.1:n.1218-274_1218-234delinsCCCTCCCTCCCGCCGGGTGCT... | |
| XM_011528812.1:c.1302-274_1302-234delinsCCCTCCCTCCCGCCGGGTGCTCGGTCCCCGTGGCCTCCCCT | XP_011527114.1:n.1302-274_1302-234delinsCCCTCCCTCCCGCCGGGTGCT... | |
| XM_011528813.1:c.1176-274_1176-234delinsCCCTCCCTCCCGCCGGGTGCTCGGTCCCCGTGGCCTCCCCT | XP_011527115.1:n.1176-274_1176-234delinsCCCTCCCTCCCGCCGGGTGCT... | |
| XM_011528814.1:c.783-274_783-234delinsCCCTCCCTCCCGCCGGGTGCTCGGTCCCCGTGGCCTCCCCT | XP_011527116.1:n.783-274_783-234delinsCCCTCCCTCCCGCCGGGTGCTCG... | |
| XM_011528815.1:c.1302-274_1302-234delinsCCCTCCCTCCCGCCGGGTGCTCGGTCCCCGTGGCCTCCCCT | XP_011527117.1:n.1302-274_1302-234delinsCCCTCCCTCCCGCCGGGTGCT... | |
| NM_004518.5:c.1218-274_1218-234delinsCCCTCCCTCCCGCCGGGTGCTCGGTCCCCGTGGCCTCCCCT | NP_004509.2:n.1218-274_1218-234delinsCCCTCCCTCCCGCCGGGTGCTCGG... | |
| NM_172106.2:c.1248-274_1248-234delinsCCCTCCCTCCCGCCGGGTGCTCGGTCCCCGTGGCCTCCCCT | NP_742104.1:n.1248-274_1248-234delinsCCCTCCCTCCCGCCGGGTGCTCGG... | |
| NM_172107.3:c.1302-274_1302-234delinsCCCTCCCTCCCGCCGGGTGCTCGGTCCCCGTGGCCTCCCCT | NP_742105.1:n.1302-274_1302-234delinsCCCTCCCTCCCGCCGGGTGCTCGG... | |
| NM_172108.4:c.1248-310_1248-270delinsCCCTCCCTCCCGCCGGGTGCTCGGTCCCCGTGGCCTCCCCT | NP_742106.1:n.1248-310_1248-270delinsCCCTCCCTCCCGCCGGGTGCTCGG... | |
| XM_011528810.2:c.1248-274_1248-234delinsCCCTCCCTCCCGCCGGGTGCTCGGTCCCCGTGGCCTCCCCT | XP_011527112.1:n.1248-274_1248-234delinsCCCTCCCTCCCGCCGGGTGCT... | |
| XM_011528811.2:c.1218-274_1218-234delinsCCCTCCCTCCCGCCGGGTGCTCGGTCCCCGTGGCCTCCCCT | XP_011527113.1:n.1218-274_1218-234delinsCCCTCCCTCCCGCCGGGTGCT... | |
| XM_017027841.2:c.1248-274_1248-234delinsCCCTCCCTCCCGCCGGGTGCTCGGTCCCCGTGGCCTCCCCT | XP_016883330.1:n.1248-274_1248-234delinsCCCTCCCTCCCGCCGGGTGCT... | |
| XM_017027842.2:c.1248-274_1248-234delinsCCCTCCCTCCCGCCGGGTGCTCGGTCCCCGTGGCCTCCCCT | XP_016883331.1:n.1248-274_1248-234delinsCCCTCCCTCCCGCCGGGTGCT... | |
| XM_017027843.1:c.1179-274_1179-234delinsCCCTCCCTCCCGCCGGGTGCTCGGTCCCCGTGGCCTCCCCT | XP_016883332.1:n.1179-274_1179-234delinsCCCTCCCTCCCGCCGGGTGCT... | |
| XM_017027844.2:c.1248-274_1248-234delinsCCCTCCCTCCCGCCGGGTGCTCGGTCCCCGTGGCCTCCCCT | XP_016883333.1:n.1248-274_1248-234delinsCCCTCCCTCCCGCCGGGTGCT... | |
| XM_017027845.1:c.210-274_210-234delinsCCCTCCCTCCCGCCGGGTGCTCGGTCCCCGTGGCCTCCCCT | XP_016883334.1:n.210-274_210-234delinsCCCTCCCTCCCGCCGGGTGCTCG... | |
| NM_004518.6:c.1218-274_1218-234delinsCCCTCCCTCCCGCCGGGTGCTCGGTCCCCGTGGCCTCCCCT | NP_004509.2:n.1218-274_1218-234delinsCCCTCCCTCCCGCCGGGTGCTCGG... | |
| NM_172106.3:c.1248-274_1248-234delinsCCCTCCCTCCCGCCGGGTGCTCGGTCCCCGTGGCCTCCCCT | NP_742104.1:n.1248-274_1248-234delinsCCCTCCCTCCCGCCGGGTGCTCGG... | |
| NM_172107.4:c.1302-274_1302-234delinsCCCTCCCTCCCGCCGGGTGCTCGGTCCCCGTGGCCTCCCCT MANE Select | NP_742105.1:n.1302-274_1302-234delinsCCCTCCCTCCCGCCGGGTGCTCGG... | |
| NM_172108.5:c.1248-310_1248-270delinsCCCTCCCTCCCGCCGGGTGCTCGGTCCCCGTGGCCTCCCCT | NP_742106.1:n.1248-310_1248-270delinsCCCTCCCTCCCGCCGGGTGCTCGG... | |
| NM_001382235.1:c.1248-274_1248-234delinsCCCTCCCTCCCGCCGGGTGCTCGGTCCCCGTGGCCTCCCCT | NP_001369164.1:n.1248-274_1248-234delinsCCCTCCCTCCCGCCGGGTGCT... |