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.127930584_127930585insATTCATGGTTAAGTTTGGAAAAT , CM000666.2:g.127930584_127930585insATTCATGGTTAAGTTTGGAAAAT | GRCh38 |
| NC_000004.11:g.128851739_128851740insATTCATGGTTAAGTTTGGAAAAT , CM000666.1:g.128851739_128851740insATTCATGGTTAAGTTTGGAAAAT | GRCh37 |
| NC_000004.10:g.129071189_129071190insATTCATGGTTAAGTTTGGAAAAT | NCBI36 |
| NG_008657.1:g.40400_40401insATTTTCCAAACTTAACCATGAAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296468.8:c.998+98_998+99insATTTTCCAAACTTAACCATGAAT | ENSP00000296468.3:n.998+98_998+99insATTTTCCAAACTTAACCATGAAT | |
| ENST00000509826.2:c.*231+98_*231+99insATTTTCCAAACTTAACCATGAAT | ENSP00000421176.2:n.*231+98_*231+99insATTTTCCAAACTTAACCATGAAT... | |
| ENST00000513559.6:c.716+98_716+99insATTTTCCAAACTTAACCATGAAT | ENSP00000425000.2:n.716+98_716+99insATTTTCCAAACTTAACCATGAAT | |
| ENST00000515130.6:c.863+98_863+99insATTTTCCAAACTTAACCATGAAT | ENSP00000493056.1:n.863+98_863+99insATTTTCCAAACTTAACCATGAAT | |
| ENST00000641025.1:c.998+98_998+99insATTTTCCAAACTTAACCATGAAT | ENSP00000493346.1:n.998+98_998+99insATTTTCCAAACTTAACCATGAAT | |
| ENST00000641092.1:c.797+98_797+99insATTTTCCAAACTTAACCATGAAT | ENSP00000493392.1:n.797+98_797+99insATTTTCCAAACTTAACCATGAAT | |
| ENST00000641133.1:c.*312+98_*312+99insATTTTCCAAACTTAACCATGAAT | ENSP00000493192.1:n.*312+98_*312+99insATTTTCCAAACTTAACCATGAAT... | |
| ENST00000641146.1:n.864+98_864+99insATTTTCCAAACTTAACCATGAAT | ||
| ENST00000641147.1:c.548+98_548+99insATTTTCCAAACTTAACCATGAAT | ENSP00000493133.1:n.548+98_548+99insATTTTCCAAACTTAACCATGAAT | |
| ENST00000641178.1:c.863+98_863+99insATTTTCCAAACTTAACCATGAAT | ENSP00000492989.1:n.863+98_863+99insATTTTCCAAACTTAACCATGAAT | |
| ENST00000641186.1:c.884+98_884+99insATTTTCCAAACTTAACCATGAAT | ENSP00000493347.1:n.884+98_884+99insATTTTCCAAACTTAACCATGAAT | |
| ENST00000641228.1:c.797+98_797+99insATTTTCCAAACTTAACCATGAAT | ENSP00000493194.1:n.797+98_797+99insATTTTCCAAACTTAACCATGAAT | |
| ENST00000641332.1:c.*163+98_*163+99insATTTTCCAAACTTAACCATGAAT | ENSP00000493397.1:n.*163+98_*163+99insATTTTCCAAACTTAACCATGAAT... | |
| ENST00000641340.1:c.*231+98_*231+99insATTTTCCAAACTTAACCATGAAT | ENSP00000493191.1:n.*231+98_*231+99insATTTTCCAAACTTAACCATGAAT... | |
| ENST00000641388.1:n.349+98_349+99insATTTTCCAAACTTAACCATGAAT | ||
| ENST00000641393.1:c.548+98_548+99insATTTTCCAAACTTAACCATGAAT | ENSP00000493197.1:n.548+98_548+99insATTTTCCAAACTTAACCATGAAT | |
| ENST00000641397.1:c.683+98_683+99insATTTTCCAAACTTAACCATGAAT | ENSP00000493406.1:n.683+98_683+99insATTTTCCAAACTTAACCATGAAT | |
| ENST00000641413.1:c.27+98_27+99insATTTTCCAAACTTAACCATGAAT | ||
| ENST00000641434.1:c.998+98_998+99insATTTTCCAAACTTAACCATGAAT | ENSP00000493279.1:n.998+98_998+99insATTTTCCAAACTTAACCATGAAT | |
| ENST00000641464.1:c.*231+98_*231+99insATTTTCCAAACTTAACCATGAAT | ENSP00000493438.1:n.*231+98_*231+99insATTTTCCAAACTTAACCATGAAT... | |
| ENST00000641482.1:c.998+98_998+99insATTTTCCAAACTTAACCATGAAT | ENSP00000493277.1:n.998+98_998+99insATTTTCCAAACTTAACCATGAAT | |
| ENST00000641508.1:c.*231+98_*231+99insATTTTCCAAACTTAACCATGAAT | ENSP00000493209.1:n.*231+98_*231+99insATTTTCCAAACTTAACCATGAAT... | |
| ENST00000641509.1:c.683+98_683+99insATTTTCCAAACTTAACCATGAAT | ENSP00000493459.1:n.683+98_683+99insATTTTCCAAACTTAACCATGAAT | |
| ENST00000641538.1:c.709+2400_709+2401insATTTTCCAAACTTAACCATGAAT | ||
| ENST00000641590.1:c.884+98_884+99insATTTTCCAAACTTAACCATGAAT | ENSP00000493132.1:n.884+98_884+99insATTTTCCAAACTTAACCATGAAT | |
| ENST00000641658.1:c.*163+98_*163+99insATTTTCCAAACTTAACCATGAAT | ENSP00000492987.1:n.*163+98_*163+99insATTTTCCAAACTTAACCATGAAT... | |
| ENST00000641686.2:c.998+98_998+99insATTTTCCAAACTTAACCATGAAT MANE Select | ENSP00000493218.2:n.998+98_998+99insATTTTCCAAACTTAACCATGAAT | |
| ENST00000641690.1:c.797+98_797+99insATTTTCCAAACTTAACCATGAAT | ENSP00000492966.1:n.797+98_797+99insATTTTCCAAACTTAACCATGAAT | |
| ENST00000641742.1:c.*163+98_*163+99insATTTTCCAAACTTAACCATGAAT | ENSP00000493315.1:n.*163+98_*163+99insATTTTCCAAACTTAACCATGAAT... | |
| ENST00000641748.1:c.998+98_998+99insATTTTCCAAACTTAACCATGAAT | ENSP00000493330.1:n.998+98_998+99insATTTTCCAAACTTAACCATGAAT | |
| ENST00000641753.1:c.825+98_825+99insATTTTCCAAACTTAACCATGAAT | ||
| ENST00000641774.1:c.*231+98_*231+99insATTTTCCAAACTTAACCATGAAT | ENSP00000492960.1:n.*231+98_*231+99insATTTTCCAAACTTAACCATGAAT... | |
| ENST00000641830.1:c.334+98_334+99insATTTTCCAAACTTAACCATGAAT | ||
| ENST00000641843.1:c.*163+98_*163+99insATTTTCCAAACTTAACCATGAAT | ENSP00000493174.1:n.*163+98_*163+99insATTTTCCAAACTTAACCATGAAT... | |
| ENST00000641869.1:c.303+98_303+99insATTTTCCAAACTTAACCATGAAT | ||
| ENST00000641870.1:c.*163+98_*163+99insATTTTCCAAACTTAACCATGAAT | ENSP00000493044.1:n.*163+98_*163+99insATTTTCCAAACTTAACCATGAAT... | |
| ENST00000641882.1:c.*163+98_*163+99insATTTTCCAAACTTAACCATGAAT | ENSP00000493301.1:n.*163+98_*163+99insATTTTCCAAACTTAACCATGAAT... | |
| ENST00000641928.1:c.*231+98_*231+99insATTTTCCAAACTTAACCATGAAT | ENSP00000493418.1:n.*231+98_*231+99insATTTTCCAAACTTAACCATGAAT... | |
| ENST00000641949.1:c.554-9749_554-9748insATTTTCCAAACTTAACCATGAAT | ENSP00000492891.1:n.554-9749_554-9748insATTTTCCAAACTTAACCATGA... | |
| ENST00000642012.1:n.862+98_862+99insATTTTCCAAACTTAACCATGAAT | ||
| ENST00000642034.1:c.884+98_884+99insATTTTCCAAACTTAACCATGAAT | ENSP00000493285.1:n.884+98_884+99insATTTTCCAAACTTAACCATGAAT | |
| ENST00000642042.1:c.998+98_998+99insATTTTCCAAACTTAACCATGAAT | ENSP00000493260.1:n.998+98_998+99insATTTTCCAAACTTAACCATGAAT | |
| ENST00000642078.1:c.*163+98_*163+99insATTTTCCAAACTTAACCATGAAT | ENSP00000492885.1:n.*163+98_*163+99insATTTTCCAAACTTAACCATGAAT... | |
| ENST00000296468.7:c.998+98_998+99insATTTTCCAAACTTAACCATGAAT | ENSP00000296468.3:n.998+98_998+99insATTTTCCAAACTTAACCATGAAT | |
| ENST00000505284.5:n.893+98_893+99insATTTTCCAAACTTAACCATGAAT | ||
| ENST00000509826.1:c.*231+98_*231+99insATTTTCCAAACTTAACCATGAAT | ENSP00000421176.1:n.*231+98_*231+99insATTTTCCAAACTTAACCATGAAT... | |
| ENST00000513559.5:c.863+98_863+99insATTTTCCAAACTTAACCATGAAT | ENSP00000425000.1:n.863+98_863+99insATTTTCCAAACTTAACCATGAAT | |
| ENST00000515130.5:n.1444+98_1444+99insATTTTCCAAACTTAACCATGAAT | ||
| NM_152778.2:c.998+98_998+99insATTTTCCAAACTTAACCATGAAT | NP_689991.1:n.998+98_998+99insATTTTCCAAACTTAACCATGAAT | |
| XM_005262893.1:c.998+98_998+99insATTTTCCAAACTTAACCATGAAT | XP_005262950.1:n.998+98_998+99insATTTTCCAAACTTAACCATGAAT | |
| XM_005262896.1:c.851+98_851+99insATTTTCCAAACTTAACCATGAAT | XP_005262953.1:n.851+98_851+99insATTTTCCAAACTTAACCATGAAT | |
| XM_005262897.1:c.797+98_797+99insATTTTCCAAACTTAACCATGAAT | XP_005262954.1:n.797+98_797+99insATTTTCCAAACTTAACCATGAAT | |
| XM_005262898.2:c.998+98_998+99insATTTTCCAAACTTAACCATGAAT | XP_005262955.1:n.998+98_998+99insATTTTCCAAACTTAACCATGAAT | |
| XM_011531830.1:c.884+98_884+99insATTTTCCAAACTTAACCATGAAT | XP_011530132.1:n.884+98_884+99insATTTTCCAAACTTAACCATGAAT | |
| XM_011531831.1:c.683+98_683+99insATTTTCCAAACTTAACCATGAAT | XP_011530133.1:n.683+98_683+99insATTTTCCAAACTTAACCATGAAT | |
| XM_011531832.1:c.884+98_884+99insATTTTCCAAACTTAACCATGAAT | XP_011530134.1:n.884+98_884+99insATTTTCCAAACTTAACCATGAAT | |
| XR_938717.1:n.1075+98_1075+99insATTTTCCAAACTTAACCATGAAT | ||
| NM_001363520.1:c.797+98_797+99insATTTTCCAAACTTAACCATGAAT | NP_001350449.1:n.797+98_797+99insATTTTCCAAACTTAACCATGAAT | |
| NM_001363521.1:c.683+98_683+99insATTTTCCAAACTTAACCATGAAT | NP_001350450.1:n.683+98_683+99insATTTTCCAAACTTAACCATGAAT | |
| XM_005262898.3:c.998+98_998+99insATTTTCCAAACTTAACCATGAAT | XP_005262955.1:n.998+98_998+99insATTTTCCAAACTTAACCATGAAT | |
| XM_017007989.1:c.797+98_797+99insATTTTCCAAACTTAACCATGAAT | XP_016863478.1:n.797+98_797+99insATTTTCCAAACTTAACCATGAAT | |
| XM_024453981.1:c.863+98_863+99insATTTTCCAAACTTAACCATGAAT | XP_024309749.1:n.863+98_863+99insATTTTCCAAACTTAACCATGAAT | |
| XM_024453982.1:c.749+98_749+99insATTTTCCAAACTTAACCATGAAT | XP_024309750.1:n.749+98_749+99insATTTTCCAAACTTAACCATGAAT | |
| XM_024453983.1:c.548+98_548+99insATTTTCCAAACTTAACCATGAAT | XP_024309751.1:n.548+98_548+99insATTTTCCAAACTTAACCATGAAT | |
| XR_001741194.1:n.1075+98_1075+99insATTTTCCAAACTTAACCATGAAT | ||
| XR_001741195.1:n.961+98_961+99insATTTTCCAAACTTAACCATGAAT | ||
| XR_001741196.1:n.874+98_874+99insATTTTCCAAACTTAACCATGAAT | ||
| XR_001741197.1:n.930+98_930+99insATTTTCCAAACTTAACCATGAAT | ||
| XR_001741198.2:n.930+98_930+99insATTTTCCAAACTTAACCATGAAT | ||
| XR_001741199.1:n.930+98_930+99insATTTTCCAAACTTAACCATGAAT | ||
| XR_938717.2:n.1075+98_1075+99insATTTTCCAAACTTAACCATGAAT | ||
| NM_001363520.2:c.797+98_797+99insATTTTCCAAACTTAACCATGAAT | NP_001350449.1:n.797+98_797+99insATTTTCCAAACTTAACCATGAAT | |
| NM_001363521.2:c.683+98_683+99insATTTTCCAAACTTAACCATGAAT | NP_001350450.1:n.683+98_683+99insATTTTCCAAACTTAACCATGAAT | |
| NM_001371590.1:c.863+98_863+99insATTTTCCAAACTTAACCATGAAT | NP_001358519.1:n.863+98_863+99insATTTTCCAAACTTAACCATGAAT | |
| NM_001371591.1:c.998+98_998+99insATTTTCCAAACTTAACCATGAAT | NP_001358520.1:n.998+98_998+99insATTTTCCAAACTTAACCATGAAT | |
| NM_001371592.1:c.1004+98_1004+99insATTTTCCAAACTTAACCATGAAT | NP_001358521.1:n.1004+98_1004+99insATTTTCCAAACTTAACCATGAAT | |
| NM_001371593.1:c.884+98_884+99insATTTTCCAAACTTAACCATGAAT | NP_001358522.1:n.884+98_884+99insATTTTCCAAACTTAACCATGAAT | |
| NM_001371594.1:c.851+98_851+99insATTTTCCAAACTTAACCATGAAT | NP_001358523.1:n.851+98_851+99insATTTTCCAAACTTAACCATGAAT | |
| NM_001371595.1:c.716+98_716+99insATTTTCCAAACTTAACCATGAAT | NP_001358524.1:n.716+98_716+99insATTTTCCAAACTTAACCATGAAT | |
| NM_001371596.2:c.998+98_998+99insATTTTCCAAACTTAACCATGAAT MANE Select | NP_001358525.1:n.998+98_998+99insATTTTCCAAACTTAACCATGAAT | |
| NM_152778.3:c.998+98_998+99insATTTTCCAAACTTAACCATGAAT | NP_689991.1:n.998+98_998+99insATTTTCCAAACTTAACCATGAAT | |
| NM_152778.4:c.998+98_998+99insATTTTCCAAACTTAACCATGAAT | NP_689991.1:n.998+98_998+99insATTTTCCAAACTTAACCATGAAT |