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_000006.12:g.87518679_87518705delinsGACTCTGGAAAACACGATCCCAGCTGA , CM000668.2:g.87518679_87518705delinsGACTCTGGAAAACACGATCCCAGCTGA | GRCh38 |
| NC_000006.11:g.88228397_88228423delinsGACTCTGGAAAACACGATCCCAGCTGA , CM000668.1:g.88228397_88228423delinsGACTCTGGAAAACACGATCCCAGCTGA | GRCh37 |
| NC_000006.10:g.88285116_88285142delinsGACTCTGGAAAACACGATCCCAGCTGA | NCBI36 |
| NG_008601.1:g.76313_76339delinsTCAGCTGGGATCGTGTTTTCCAGAGTC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000451155.2:c.815_841delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ENSP00000389656.2:p.Phe272= | |
| ENST00000493269.2:n.1360_1386delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| ENST00000497828.2:n.3535_3561delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| ENST00000684790.1:c.*346_*372delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ENSP00000509974.1:n.*346_*372delinsTCAGCT... | |
| ENST00000685069.1:c.401_427delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ENSP00000509876.1:p.Phe134= | |
| ENST00000685219.1:n.1376_1402delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| ENST00000685336.1:c.*763_*789delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ENSP00000508757.1:n.*763_*789delinsTCAGCT... | |
| ENST00000685376.1:c.*462_*488delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ENSP00000508661.1:n.*462_*488delinsTCAGCT... | |
| ENST00000685408.1:c.815_841delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ENSP00000509026.1:p.Phe272= | |
| ENST00000685701.1:c.401_427delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ENSP00000509573.1:p.Phe134= | |
| ENST00000685881.1:c.815_841delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ENSP00000510572.1:p.Phe272= | |
| ENST00000686142.1:c.815_841delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ENSP00000510793.1:p.Phe272= | |
| ENST00000686154.1:c.401_427delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ENSP00000508436.1:p.Phe134= | |
| ENST00000686196.1:n.1585_1611delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| ENST00000686284.1:c.401_427delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ENSP00000510099.1:p.Phe134= | |
| ENST00000686371.1:n.842_868delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| ENST00000686407.1:c.401_427delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ENSP00000509880.1:p.Phe134= | |
| ENST00000686857.1:c.*256_*282delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ENSP00000509934.1:n.*256_*282delinsTCAGCT... | |
| ENST00000686988.1:c.1438_1464delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ENSP00000508830.1:n.1438_1464delinsTCAGCT... | |
| ENST00000687090.1:n.1705_1731delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| ENST00000687437.1:c.1340_1366delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ENSP00000508968.1:p.Phe447= | |
| ENST00000687579.1:c.*386_*412delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ENSP00000510257.1:n.*386_*412delinsTCAGCT... | |
| ENST00000687586.1:c.263_289delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ENSP00000508441.1:p.Phe88= | |
| ENST00000687729.1:c.781-23_784delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| ENST00000687909.1:c.*750_*776delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ENSP00000508659.1:n.*750_*776delinsTCAGCT... | |
| ENST00000688106.1:c.401_427delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ENSP00000509529.1:p.Phe134= | |
| ENST00000688391.1:n.1848_1874delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| ENST00000688532.1:c.263_289delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ENSP00000510320.1:p.Phe88= | |
| ENST00000688808.1:n.1846_1872delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| ENST00000688842.1:n.3814_3840delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| ENST00000689174.1:c.815_841delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ENSP00000510542.1:p.Phe272= | |
| ENST00000689206.1:c.401_427delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ENSP00000510495.1:p.Phe134= | |
| ENST00000689561.1:n.2356_2382delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| ENST00000689594.1:n.2332_2358delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| ENST00000689952.1:c.*678_*704delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ENSP00000508977.1:n.*678_*704delinsTCAGCT... | |
| ENST00000690205.1:c.*1218_*1244delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ENSP00000508972.1:n.*1218_*1244delinsTCAG... | |
| ENST00000690622.1:c.401_427delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ENSP00000508528.1:p.Phe134= | |
| ENST00000690705.1:c.*256_*282delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ENSP00000509923.1:n.*256_*282delinsTCAGCT... | |
| ENST00000690884.1:c.*256_*282delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ENSP00000509931.1:n.*256_*282delinsTCAGCT... | |
| ENST00000691205.1:n.2306_2332delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| ENST00000691238.1:c.*462_*488delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ENSP00000510094.1:n.*462_*488delinsTCAGCT... | |
| ENST00000691533.1:n.1376_1402delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| ENST00000691634.1:n.1221_1247delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| ENST00000691725.1:c.1340_1366delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ENSP00000509453.1:p.Phe447= | |
| ENST00000691815.1:c.*256_*282delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ENSP00000509579.1:n.*256_*282delinsTCAGCT... | |
| ENST00000692270.1:c.*256_*282delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ENSP00000510055.1:n.*256_*282delinsTCAGCT... | |
| ENST00000692394.1:c.119_145delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ENSP00000509567.1:p.Phe40= | |
| ENST00000692684.1:c.815_841delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ENSP00000509712.1:p.Phe272= | |
| ENST00000692843.1:c.*327_*353delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ENSP00000509592.1:n.*327_*353delinsTCAGCT... | |
| ENST00000693327.1:c.815_841delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ENSP00000509195.1:p.Phe272= | |
| ENST00000693431.1:c.815_841delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ENSP00000509147.1:p.Phe272= | |
| ENST00000693605.1:c.*256_*282delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ENSP00000510050.1:n.*256_*282delinsTCAGCT... | |
| ENST00000369536.10:c.1340_1366delinsTCAGCTGGGATCGTGTTTTCCAGAGTC MANE Select | ENSP00000358549.5:p.Phe447= | |
| ENST00000369536.9:c.1340_1366delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ENSP00000358549.5:p.Phe447= | |
| ENST00000497828.1:n.443_469delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| NM_020320.3:c.1340_1366delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | NP_064716.2:p.Phe447= | |
| XM_005248735.3:c.815_841delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | XP_005248792.2:p.Phe272= | |
| XM_005248736.3:c.815_841delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | XP_005248793.2:p.Phe272= | |
| XM_005248737.3:c.815_841delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | XP_005248794.2:p.Phe272= | |
| XM_011535947.1:c.1340_1366delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | XP_011534249.1:p.Phe447= | |
| XM_011535948.1:c.1340_1366delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | XP_011534250.1:p.Phe447= | |
| XM_011535949.1:c.1340_1366delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | XP_011534251.1:p.Phe447= | |
| XM_011535950.1:c.815_841delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | XP_011534252.1:p.Phe272= | |
| XM_011535951.1:c.815_841delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | XP_011534253.1:p.Phe272= | |
| XM_011535952.1:c.401_427delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | XP_011534254.1:p.Phe134= | |
| XM_011535953.1:c.401_427delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | XP_011534255.1:p.Phe134= | |
| XM_011535954.1:c.401_427delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | XP_011534256.1:p.Phe134= | |
| XM_011535955.1:c.401_427delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | XP_011534257.1:p.Phe134= | |
| XR_241848.1:n.1396_1422delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| NM_001318785.1:c.815_841delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | NP_001305714.1:p.Phe272= | |
| NM_001350505.1:c.1340_1366delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | NP_001337434.1:p.Phe447= | |
| NM_001350506.1:c.815_841delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | NP_001337435.1:p.Phe272= | |
| NM_001350507.1:c.815_841delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | NP_001337436.1:p.Phe272= | |
| NM_001350508.1:c.815_841delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | NP_001337437.1:p.Phe272= | |
| NM_001350509.1:c.815_841delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | NP_001337438.1:p.Phe272= | |
| NM_001350510.1:c.815_841delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | NP_001337439.1:p.Phe272= | |
| NM_001350511.1:c.815_841delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | NP_001337440.1:p.Phe272= | |
| NM_020320.4:c.1340_1366delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | NP_064716.2:p.Phe447= | |
| NR_134857.1:n.1411_1437delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| NR_146738.1:n.1683_1709delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| NR_146739.1:n.1492_1518delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| NR_146740.1:n.1760_1786delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| NR_146741.1:n.1422_1448delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| NR_146742.1:n.1794_1820delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| NR_146743.1:n.1632_1658delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| NR_146744.1:n.1760_1786delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| NR_146745.1:n.1419_1445delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| NR_146746.1:n.1854_1880delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| NR_146747.1:n.1198_1224delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| NR_146748.1:n.1658_1684delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| NR_146749.1:n.1632_1658delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| NR_146750.1:n.1756_1782delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| NR_146751.1:n.1636_1662delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| NR_146752.1:n.1700_1726delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| NR_146753.1:n.1552_1578delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| NR_146754.1:n.1496_1522delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| NR_146755.1:n.1760_1786delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| NR_146756.1:n.1415_1441delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| NR_146757.1:n.1686_1712delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| NR_146758.1:n.1415_1441delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| NR_146759.1:n.1415_1441delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| XM_011535949.3:c.1340_1366delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | XP_011534251.1:p.Phe447= | |
| XM_017011073.1:c.815_841delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | XP_016866562.1:p.Phe272= | |
| XM_017011074.2:c.815_841delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | XP_016866563.1:p.Phe272= | |
| XM_017011075.2:c.815_841delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | XP_016866564.1:p.Phe272= | |
| XM_017011076.2:c.815_841delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | XP_016866565.1:p.Phe272= | |
| XM_017011077.2:c.815_841delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | XP_016866566.1:p.Phe272= | |
| XM_017011078.2:c.815_841delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | XP_016866567.1:p.Phe272= | |
| XM_024446494.1:c.815_841delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | XP_024302262.1:p.Phe272= | |
| NM_020320.5:c.1340_1366delinsTCAGCTGGGATCGTGTTTTCCAGAGTC MANE Select | NP_064716.2:p.Phe447= | |
| NM_001318785.2:c.815_841delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | NP_001305714.1:p.Phe272= | |
| NM_001350505.2:c.1340_1366delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | NP_001337434.1:p.Phe447= | |
| NM_001350506.2:c.815_841delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | NP_001337435.1:p.Phe272= | |
| NM_001350507.2:c.815_841delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | NP_001337436.1:p.Phe272= | |
| NM_001350508.2:c.815_841delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | NP_001337437.1:p.Phe272= | |
| NM_001350509.2:c.815_841delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | NP_001337438.1:p.Phe272= | |
| NM_001350510.2:c.815_841delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | NP_001337439.1:p.Phe272= | |
| NM_001350511.2:c.815_841delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | NP_001337440.1:p.Phe272= | |
| NR_134857.2:n.1366_1392delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| NR_146738.2:n.1638_1664delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| NR_146739.2:n.1447_1473delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| NR_146740.2:n.1715_1741delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| NR_146741.2:n.1377_1403delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| NR_146742.2:n.1749_1775delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| NR_146743.2:n.1587_1613delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| NR_146744.2:n.1715_1741delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| NR_146745.2:n.1374_1400delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| NR_146746.2:n.1809_1835delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| NR_146747.2:n.1153_1179delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| NR_146748.2:n.1613_1639delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| NR_146749.2:n.1587_1613delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| NR_146750.2:n.1711_1737delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| NR_146751.2:n.1591_1617delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| NR_146752.2:n.1655_1681delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| NR_146753.2:n.1507_1533delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| NR_146754.2:n.1451_1477delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| NR_146755.2:n.1715_1741delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| NR_146756.2:n.1370_1396delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| NR_146757.2:n.1641_1667delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| NR_146758.2:n.1370_1396delinsTCAGCTGGGATCGTGTTTTCCAGAGTC | ||
| NR_146759.2:n.1370_1396delinsTCAGCTGGGATCGTGTTTTCCAGAGTC |