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_000012.12:g.48141670_48141673delinsCCCT , CM000674.2:g.48141670_48141673delinsCCCT | GRCh38 |
| NC_000012.11:g.48535453_48535456delinsCCCT , CM000674.1:g.48535453_48535456delinsCCCT | GRCh37 |
| NC_000012.10:g.46821720_46821723delinsCCCT | NCBI36 |
| NG_016199.1:g.40798_40801delinsCCCT | |
| NG_016199.2:g.41418_41421delinsCCCT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000550257.7:c.1635-70_1635-67delinsCCCT | ENSP00000447997.3:n.1635-70_1635-67delinsCCCT | |
| ENST00000340802.12:c.1626-70_1626-67delinsCCCT | ENSP00000345771.6:n.1626-70_1626-67delinsCCCT | |
| ENST00000359794.11:c.1413-70_1413-67delinsCCCT MANE Select | ENSP00000352842.5:n.1413-70_1413-67delinsCCCT | |
| ENST00000549941.7:c.1320-70_1320-67delinsCCCT | ENSP00000446829.3:n.1320-70_1320-67delinsCCCT | |
| ENST00000550345.6:c.1413-70_1413-67delinsCCCT | ENSP00000450369.2:n.1413-70_1413-67delinsCCCT | |
| ENST00000550924.6:c.1413-70_1413-67delinsCCCT | ENSP00000446945.2:n.1413-70_1413-67delinsCCCT | |
| ENST00000551339.6:c.1413-70_1413-67delinsCCCT | ENSP00000448253.2:n.1413-70_1413-67delinsCCCT | |
| ENST00000642730.1:c.1722-70_1722-67delinsCCCT | ENSP00000496597.1:n.1722-70_1722-67delinsCCCT | |
| ENST00000312352.11:c.1413-70_1413-67delinsCCCT | ENSP00000309438.7:n.1413-70_1413-67delinsCCCT | |
| ENST00000340802.10:c.1626-70_1626-67delinsCCCT | ENSP00000345771.6:n.1626-70_1626-67delinsCCCT | |
| ENST00000359794.9:c.1413-70_1413-67delinsCCCT | ENSP00000352842.5:n.1413-70_1413-67delinsCCCT | |
| ENST00000546465.1:c.258-70_258-67delinsCCCT | ENSP00000446519.1:n.258-70_258-67delinsCCCT | |
| ENST00000546964.5:n.1737-70_1737-67delinsCCCT | ||
| ENST00000547581.5:c.*1681-70_*1681-67delinsCCCT | ENSP00000447992.1:n.*1681-70_*1681-67delinsCCCT | |
| ENST00000547587.5:c.1413-70_1413-67delinsCCCT | ENSP00000449426.1:n.1413-70_1413-67delinsCCCT | |
| ENST00000550802.1:n.45-70_45-67delinsCCCT | ||
| ENST00000551804.5:c.1320-70_1320-67delinsCCCT | ENSP00000448177.1:n.1320-70_1320-67delinsCCCT | |
| ENST00000552752.5:c.562-70_562-67delinsCCCT | ||
| NM_000289.5:c.1413-70_1413-67delinsCCCT | NP_000280.1:n.1413-70_1413-67delinsCCCT | |
| NM_001166686.1:c.1626-70_1626-67delinsCCCT | NP_001160158.1:n.1626-70_1626-67delinsCCCT | |
| NM_001166687.1:c.1413-70_1413-67delinsCCCT | NP_001160159.1:n.1413-70_1413-67delinsCCCT | |
| NM_001166688.1:c.1413-70_1413-67delinsCCCT | NP_001160160.1:n.1413-70_1413-67delinsCCCT | |
| XM_005268974.1:c.1722-70_1722-67delinsCCCT | XP_005269031.1:n.1722-70_1722-67delinsCCCT | |
| XM_005268975.1:c.1722-70_1722-67delinsCCCT | XP_005269032.1:n.1722-70_1722-67delinsCCCT | |
| XM_005268976.2:c.1722-70_1722-67delinsCCCT | XP_005269033.1:n.1722-70_1722-67delinsCCCT | |
| XM_005268977.1:c.1626-70_1626-67delinsCCCT | XP_005269034.1:n.1626-70_1626-67delinsCCCT | |
| XM_005268978.2:c.1626-70_1626-67delinsCCCT | XP_005269035.1:n.1626-70_1626-67delinsCCCT | |
| XM_005268979.1:c.1626-70_1626-67delinsCCCT | XP_005269036.1:n.1626-70_1626-67delinsCCCT | |
| XM_011538487.1:c.1629-70_1629-67delinsCCCT | XP_011536789.1:n.1629-70_1629-67delinsCCCT | |
| XM_011538488.1:c.1413-70_1413-67delinsCCCT | XP_011536790.1:n.1413-70_1413-67delinsCCCT | |
| NM_000289.6:c.1413-70_1413-67delinsCCCT MANE Select | NP_000280.1:n.1413-70_1413-67delinsCCCT | |
| NM_001166686.2:c.1626-70_1626-67delinsCCCT | NP_001160158.1:n.1626-70_1626-67delinsCCCT | |
| NM_001354735.1:c.1722-70_1722-67delinsCCCT | NP_001341664.1:n.1722-70_1722-67delinsCCCT | |
| NM_001354736.1:c.1722-70_1722-67delinsCCCT | NP_001341665.1:n.1722-70_1722-67delinsCCCT | |
| NM_001354737.1:c.1626-70_1626-67delinsCCCT | NP_001341666.1:n.1626-70_1626-67delinsCCCT | |
| NM_001354738.1:c.1626-70_1626-67delinsCCCT | NP_001341667.1:n.1626-70_1626-67delinsCCCT | |
| NM_001354739.1:c.1626-70_1626-67delinsCCCT | NP_001341668.1:n.1626-70_1626-67delinsCCCT | |
| NM_001354740.1:c.1557-70_1557-67delinsCCCT | NP_001341669.1:n.1557-70_1557-67delinsCCCT | |
| NM_001354741.1:c.1437-70_1437-67delinsCCCT | NP_001341670.1:n.1437-70_1437-67delinsCCCT | |
| NM_001354742.1:c.1413-70_1413-67delinsCCCT | NP_001341671.1:n.1413-70_1413-67delinsCCCT | |
| NM_001354743.1:c.1413-70_1413-67delinsCCCT | NP_001341672.1:n.1413-70_1413-67delinsCCCT | |
| NM_001354744.1:c.1413-70_1413-67delinsCCCT | NP_001341673.1:n.1413-70_1413-67delinsCCCT | |
| NM_001354745.1:c.1326-70_1326-67delinsCCCT | NP_001341674.1:n.1326-70_1326-67delinsCCCT | |
| NM_001354746.1:c.1287-70_1287-67delinsCCCT | NP_001341675.1:n.1287-70_1287-67delinsCCCT | |
| NM_001354747.1:c.1263-70_1263-67delinsCCCT | NP_001341676.1:n.1263-70_1263-67delinsCCCT | |
| NM_001354748.1:c.1263-70_1263-67delinsCCCT | NP_001341677.1:n.1263-70_1263-67delinsCCCT | |
| NM_001363619.1:c.1320-70_1320-67delinsCCCT | NP_001350548.1:n.1320-70_1320-67delinsCCCT | |
| NR_148954.1:n.1850-70_1850-67delinsCCCT | ||
| NR_148955.1:n.2486-70_2486-67delinsCCCT | ||
| NR_148956.1:n.1776-70_1776-67delinsCCCT | ||
| NR_148957.1:n.2005-70_2005-67delinsCCCT | ||
| NR_148958.1:n.1753-70_1753-67delinsCCCT | ||
| NR_148959.1:n.1679-70_1679-67delinsCCCT | ||
| XM_005268976.3:c.1722-70_1722-67delinsCCCT | XP_005269033.1:n.1722-70_1722-67delinsCCCT | |
| XM_017019469.1:c.1533-70_1533-67delinsCCCT | XP_016874958.1:n.1533-70_1533-67delinsCCCT | |
| XM_024449020.1:c.1635-70_1635-67delinsCCCT | XP_024304788.1:n.1635-70_1635-67delinsCCCT | |
| XM_024449021.1:c.1512-70_1512-67delinsCCCT | XP_024304789.1:n.1512-70_1512-67delinsCCCT | |
| XM_024449022.1:c.1413-70_1413-67delinsCCCT | XP_024304790.1:n.1413-70_1413-67delinsCCCT | |
| NM_001166687.2:c.1413-70_1413-67delinsCCCT | NP_001160159.1:n.1413-70_1413-67delinsCCCT | |
| NM_001166688.2:c.1413-70_1413-67delinsCCCT | NP_001160160.1:n.1413-70_1413-67delinsCCCT | |
| NM_001354741.2:c.1437-70_1437-67delinsCCCT | NP_001341670.1:n.1437-70_1437-67delinsCCCT | |
| NM_001354742.2:c.1413-70_1413-67delinsCCCT | NP_001341671.1:n.1413-70_1413-67delinsCCCT | |
| NM_001354743.2:c.1413-70_1413-67delinsCCCT | NP_001341672.1:n.1413-70_1413-67delinsCCCT | |
| NM_001354744.2:c.1413-70_1413-67delinsCCCT | NP_001341673.1:n.1413-70_1413-67delinsCCCT | |
| NM_001354745.2:c.1326-70_1326-67delinsCCCT | NP_001341674.1:n.1326-70_1326-67delinsCCCT | |
| NM_001354746.2:c.1287-70_1287-67delinsCCCT | NP_001341675.1:n.1287-70_1287-67delinsCCCT | |
| NM_001354747.2:c.1263-70_1263-67delinsCCCT | NP_001341676.1:n.1263-70_1263-67delinsCCCT | |
| NM_001354748.2:c.1263-70_1263-67delinsCCCT | NP_001341677.1:n.1263-70_1263-67delinsCCCT | |
| NM_001363619.2:c.1320-70_1320-67delinsCCCT | NP_001350548.1:n.1320-70_1320-67delinsCCCT | |
| NR_148954.2:n.1716-70_1716-67delinsCCCT | ||
| NR_148956.2:n.1642-70_1642-67delinsCCCT | ||
| NR_148957.2:n.1871-70_1871-67delinsCCCT | ||
| NR_148958.2:n.1619-70_1619-67delinsCCCT | ||
| NR_148959.2:n.1545-70_1545-67delinsCCCT |