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_000004.12:g.127921656_127921657dup , CM000666.2:g.127921656_127921657dup | GRCh38 |
| NC_000004.11:g.128842811_128842812dup , CM000666.1:g.128842811_128842812dup | GRCh37 |
| NC_000004.10:g.129062261_129062262dup | NCBI36 |
| NG_008657.1:g.49328_49329dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296468.8:c.1217_1218dup | ENSP00000296468.3:p.Trp407ProfsTer8 | |
| ENST00000509826.2:c.*538_*539dup | ENSP00000421176.2:n.*538_*539dup | |
| ENST00000513559.6:c.935_936dup | ENSP00000425000.2:p.Trp313ProfsTer8 | |
| ENST00000515130.6:c.*102_*103dup | ENSP00000493056.1:n.*102_*103dup | |
| ENST00000641025.1:c.*102_*103dup | ENSP00000493346.1:n.*102_*103dup | |
| ENST00000641092.1:c.*102_*103dup | ENSP00000493392.1:n.*102_*103dup | |
| ENST00000641133.1:c.*531_*532dup | ENSP00000493192.1:n.*531_*532dup | |
| ENST00000641146.1:n.1083_1084dup | ||
| ENST00000641147.1:c.767_768dup | ENSP00000493133.1:p.Trp257ProfsTer8 | |
| ENST00000641178.1:c.1082_1083dup | ENSP00000492989.1:p.Trp362ProfsTer8 | |
| ENST00000641186.1:c.1103_1104dup | ENSP00000493347.1:p.Trp369ProfsTer8 | |
| ENST00000641228.1:c.*102_*103dup | ENSP00000493194.1:n.*102_*103dup | |
| ENST00000641332.1:c.*278_*279dup | ENSP00000493397.1:n.*278_*279dup | |
| ENST00000641340.1:c.*346_*347dup | ENSP00000493191.1:n.*346_*347dup | |
| ENST00000641388.1:n.464_465dup | ||
| ENST00000641393.1:c.767_768dup | ENSP00000493197.1:p.Trp257ProfsTer8 | |
| ENST00000641397.1:c.*102_*103dup | ENSP00000493406.1:n.*102_*103dup | |
| ENST00000641413.1:c.142_143dup | ||
| ENST00000641434.1:c.1217_1218dup | ENSP00000493279.1:p.Trp407ProfsTer8 | |
| ENST00000641464.1:c.*450_*451dup | ENSP00000493438.1:n.*450_*451dup | |
| ENST00000641482.1:c.*102_*103dup | ENSP00000493277.1:n.*102_*103dup | |
| ENST00000641508.1:c.*450_*451dup | ENSP00000493209.1:n.*450_*451dup | |
| ENST00000641509.1:c.902_903dup | ENSP00000493459.1:p.Trp302ProfsTer8 | |
| ENST00000641590.1:c.*102_*103dup | ENSP00000493132.1:n.*102_*103dup | |
| ENST00000641658.1:c.*382_*383dup | ENSP00000492987.1:n.*382_*383dup | |
| ENST00000641686.2:c.1217_1218dup MANE Select | ENSP00000493218.2:p.Trp407ProfsTer8 | |
| ENST00000641690.1:c.1016_1017dup | ENSP00000492966.1:p.Trp340ProfsTer8 | |
| ENST00000641742.1:c.*382_*383dup | ENSP00000493315.1:n.*382_*383dup | |
| ENST00000641748.1:c.1217_1218dup | ENSP00000493330.1:p.Trp407ProfsTer8 | |
| ENST00000641753.1:c.1044_1045dup | ||
| ENST00000641774.1:c.*469_*470dup | ENSP00000492960.1:n.*469_*470dup | |
| ENST00000641830.1:c.449_450dup | ||
| ENST00000641843.1:c.*278_*279dup | ENSP00000493174.1:n.*278_*279dup | |
| ENST00000641869.1:c.418_419dup | ||
| ENST00000641870.1:c.*278_*279dup | ENSP00000493044.1:n.*278_*279dup | |
| ENST00000641882.1:c.*382_*383dup | ENSP00000493301.1:n.*382_*383dup | |
| ENST00000641928.1:c.*346_*347dup | ENSP00000493418.1:n.*346_*347dup | |
| ENST00000641949.1:c.554-821_554-820dup | ENSP00000492891.1:n.554-821_554-820dup | |
| ENST00000642012.1:n.1081_1082dup | ||
| ENST00000642034.1:c.*102_*103dup | ENSP00000493285.1:n.*102_*103dup | |
| ENST00000642042.1:c.1217_1218dup | ENSP00000493260.1:p.Trp407ProfsTer8 | |
| ENST00000642078.1:c.*278_*279dup | ENSP00000492885.1:n.*278_*279dup | |
| ENST00000296468.7:c.1217_1218dup | ENSP00000296468.3:p.Trp407ProfsTer8 | |
| ENST00000504126.1:n.245_246dup | ||
| ENST00000513559.5:c.1082_1083dup | ENSP00000425000.1:p.Trp362ProfsTer8 | |
| ENST00000515130.5:n.1559_1560dup | ||
| NM_152778.2:c.1217_1218dup | NP_689991.1:p.Trp407ProfsTer8 | |
| XM_005262893.1:c.1217_1218dup | XP_005262950.1:p.Trp407ProfsTer8 | |
| XM_005262896.1:c.1070_1071dup | XP_005262953.1:p.Trp358ProfsTer8 | |
| XM_005262897.1:c.1016_1017dup | XP_005262954.1:p.Trp340ProfsTer8 | |
| XM_005262898.2:c.*102_*103dup | XP_005262955.1:n.*102_*103dup | |
| XM_011531830.1:c.1103_1104dup | XP_011530132.1:p.Trp369ProfsTer8 | |
| XM_011531831.1:c.902_903dup | XP_011530133.1:p.Trp302ProfsTer8 | |
| XM_011531832.1:c.*102_*103dup | XP_011530134.1:n.*102_*103dup | |
| XR_938717.1:n.1294_1295dup | ||
| NM_001363520.1:c.1016_1017dup | NP_001350449.1:p.Trp340ProfsTer8 | |
| NM_001363521.1:c.902_903dup | NP_001350450.1:p.Trp302ProfsTer8 | |
| XM_005262898.3:c.*102_*103dup | XP_005262955.1:n.*102_*103dup | |
| XM_017007989.1:c.*102_*103dup | XP_016863478.1:n.*102_*103dup | |
| XM_024453981.1:c.1082_1083dup | XP_024309749.1:p.Trp362ProfsTer8 | |
| XM_024453982.1:c.968_969dup | XP_024309750.1:p.Trp324ProfsTer8 | |
| XM_024453983.1:c.767_768dup | XP_024309751.1:p.Trp257ProfsTer8 | |
| XR_001741194.1:n.1190_1191dup | ||
| XR_001741195.1:n.1076_1077dup | ||
| XR_001741196.1:n.989_990dup | ||
| XR_001741197.1:n.1149_1150dup | ||
| XR_001741198.2:n.1045_1046dup | ||
| XR_001741199.1:n.1045_1046dup | ||
| XR_938717.2:n.1294_1295dup | ||
| NM_001363520.2:c.1016_1017dup | NP_001350449.1:p.Trp340ProfsTer8 | |
| NM_001363521.2:c.902_903dup | NP_001350450.1:p.Trp302ProfsTer8 | |
| NM_001371590.1:c.1082_1083dup | NP_001358519.1:p.Trp362ProfsTer8 | |
| NM_001371591.1:c.1217_1218dup | NP_001358520.1:p.Trp407ProfsTer8 | |
| NM_001371592.1:c.1223_1224dup | NP_001358521.1:p.Trp409ProfsTer8 | |
| NM_001371593.1:c.1103_1104dup | NP_001358522.1:p.Trp369ProfsTer8 | |
| NM_001371594.1:c.1070_1071dup | NP_001358523.1:p.Trp358ProfsTer8 | |
| NM_001371595.1:c.935_936dup | NP_001358524.1:p.Trp313ProfsTer8 | |
| NM_001371596.2:c.1217_1218dup MANE Select | NP_001358525.1:p.Trp407ProfsTer8 | |
| NM_152778.3:c.1217_1218dup | NP_689991.1:p.Trp407ProfsTer8 | |
| NM_152778.4:c.1217_1218dup | NP_689991.1:p.Trp407ProfsTer8 |