UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.127920863C= , CM000666.2:g.127920863C= | GRCh38 |
| NC_000004.11:g.128842018C= , CM000666.1:g.128842018C= | GRCh37 |
| NC_000004.10:g.129061468C= | NCBI36 |
| NG_008657.1:g.50122G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296468.8:c.1351-27G= | ENSP00000296468.3:n.1351-27G= | |
| ENST00000509826.2:c.*672-27G= | ENSP00000421176.2:n.*672-27G= | |
| ENST00000513559.6:c.1069-27G= | ENSP00000425000.2:n.1069-27G= | |
| ENST00000515130.6:c.*236-27G= | ENSP00000493056.1:n.*236-27G= | |
| ENST00000641025.1:c.*236-27G= | ENSP00000493346.1:n.*236-27G= | |
| ENST00000641092.1:c.*236-27G= | ENSP00000493392.1:n.*236-27G= | |
| ENST00000641133.1:c.*1325G= | ENSP00000493192.1:n.*1325G= | |
| ENST00000641146.1:n.1877G= | ||
| ENST00000641147.1:c.901-27G= | ENSP00000493133.1:n.901-27G= | |
| ENST00000641178.1:c.1216-27G= | ENSP00000492989.1:n.1216-27G= | |
| ENST00000641186.1:c.1237-27G= | ENSP00000493347.1:n.1237-27G= | |
| ENST00000641228.1:c.*896G= | ENSP00000493194.1:n.*896G= | |
| ENST00000641332.1:c.*493-27G= | ENSP00000493397.1:n.*493-27G= | |
| ENST00000641340.1:c.*1140G= | ENSP00000493191.1:n.*1140G= | |
| ENST00000641388.1:n.598-27G= | ||
| ENST00000641393.1:c.901-27G= | ENSP00000493197.1:n.901-27G= | |
| ENST00000641397.1:c.*236-27G= | ENSP00000493406.1:n.*236-27G= | |
| ENST00000641413.1:c.276-27G= | ||
| ENST00000641434.1:c.1351-27G= | ENSP00000493279.1:n.1351-27G= | |
| ENST00000641464.1:c.*584-27G= | ENSP00000493438.1:n.*584-27G= | |
| ENST00000641482.1:c.*896G= | ENSP00000493277.1:n.*896G= | |
| ENST00000641508.1:c.*584-27G= | ENSP00000493209.1:n.*584-27G= | |
| ENST00000641509.1:c.1036-27G= | ENSP00000493459.1:n.1036-27G= | |
| ENST00000641590.1:c.*896G= | ENSP00000493132.1:n.*896G= | |
| ENST00000641658.1:c.*516-27G= | ENSP00000492987.1:n.*516-27G= | |
| ENST00000641686.2:c.1351-27G= MANE Select | ENSP00000493218.2:n.1351-27G= | |
| ENST00000641690.1:c.1150-27G= | ENSP00000492966.1:n.1150-27G= | |
| ENST00000641742.1:c.*516-27G= | ENSP00000493315.1:n.*516-27G= | |
| ENST00000641748.1:c.1351-27G= | ENSP00000493330.1:n.1351-27G= | |
| ENST00000641753.1:c.1178-27G= | ||
| ENST00000641774.1:c.*603-27G= | ENSP00000492960.1:n.*603-27G= | |
| ENST00000641843.1:c.*412-27G= | ENSP00000493174.1:n.*412-27G= | |
| ENST00000641869.1:c.552-27G= | ||
| ENST00000641870.1:c.*1072G= | ENSP00000493044.1:n.*1072G= | |
| ENST00000641882.1:c.*516-27G= | ENSP00000493301.1:n.*516-27G= | |
| ENST00000641928.1:c.*480-27G= | ENSP00000493418.1:n.*480-27G= | |
| ENST00000641949.1:c.554-27G= | ENSP00000492891.1:n.554-27G= | |
| ENST00000642012.1:n.1215-27G= | ||
| ENST00000642034.1:c.*236-27G= | ENSP00000493285.1:n.*236-27G= | |
| ENST00000642042.1:c.*643G= | ENSP00000493260.1:n.*643G= | |
| ENST00000642078.1:c.*412-27G= | ENSP00000492885.1:n.*412-27G= | |
| ENST00000296468.7:c.1351-27G= | ENSP00000296468.3:n.1351-27G= | |
| ENST00000513559.5:c.1216-27G= | ENSP00000425000.1:n.1216-27G= | |
| ENST00000515130.5:n.1693-27G= | ||
| NM_152778.2:c.1351-27G= | NP_689991.1:n.1351-27G= | |
| XM_005262893.1:c.1351-27G= | XP_005262950.1:n.1351-27G= | |
| XM_005262896.1:c.1204-27G= | XP_005262953.1:n.1204-27G= | |
| XM_005262897.1:c.1150-27G= | XP_005262954.1:n.1150-27G= | |
| XM_005262898.2:c.*896G= | XP_005262955.1:n.*896G= | |
| XM_011531830.1:c.1237-27G= | XP_011530132.1:n.1237-27G= | |
| XM_011531831.1:c.1036-27G= | XP_011530133.1:n.1036-27G= | |
| XM_011531832.1:c.*896G= | XP_011530134.1:n.*896G= | |
| XR_938717.1:n.1834-27G= | ||
| NM_001363520.1:c.1150-27G= | NP_001350449.1:n.1150-27G= | |
| NM_001363521.1:c.1036-27G= | NP_001350450.1:n.1036-27G= | |
| XM_005262898.3:c.*896G= | XP_005262955.1:n.*896G= | |
| XM_017007989.1:c.*896G= | XP_016863478.1:n.*896G= | |
| XM_024453981.1:c.1216-27G= | XP_024309749.1:n.1216-27G= | |
| XM_024453982.1:c.1102-27G= | XP_024309750.1:n.1102-27G= | |
| XM_024453983.1:c.901-27G= | XP_024309751.1:n.901-27G= | |
| XR_001741194.1:n.1324-27G= | ||
| XR_001741195.1:n.1210-27G= | ||
| XR_001741196.1:n.1123-27G= | ||
| XR_001741197.1:n.1943G= | ||
| XR_001741198.2:n.1839G= | ||
| XR_001741199.1:n.1179-27G= | ||
| XR_938717.2:n.1834-27G= | ||
| NM_001363520.2:c.1150-27G= | NP_001350449.1:n.1150-27G= | |
| NM_001363521.2:c.1036-27G= | NP_001350450.1:n.1036-27G= | |
| NM_001371590.1:c.1216-27G= | NP_001358519.1:n.1216-27G= | |
| NM_001371591.1:c.1360-27G= | NP_001358520.1:n.1360-27G= | |
| NM_001371592.1:c.1357-27G= | NP_001358521.1:n.1357-27G= | |
| NM_001371593.1:c.1237-27G= | NP_001358522.1:n.1237-27G= | |
| NM_001371594.1:c.1204-27G= | NP_001358523.1:n.1204-27G= | |
| NM_001371595.1:c.1069-27G= | NP_001358524.1:n.1069-27G= | |
| NM_001371596.2:c.1351-27G= MANE Select | NP_001358525.1:n.1351-27G= | |
| NM_152778.3:c.1351-27G= | NP_689991.1:n.1351-27G= | |
| NM_152778.4:c.1351-27G= | NP_689991.1:n.1351-27G= |