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_000003.12:g.37017502_37017510del , CM000665.2:g.37017502_37017510del | GRCh38 |
| NC_000003.11:g.37058993_37059001del , CM000665.1:g.37058993_37059001del | GRCh37 |
| NC_000003.10:g.37033997_37034005del | NCBI36 |
| NG_007109.2:g.29153_29161del , LRG_216:g.29153_29161del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413740.2:c.791-4_795del | ||
| ENST00000429117.6:c.497-4_501del | ||
| ENST00000450420.6:c.791-4_795del | ||
| ENST00000456676.7:c.791-4_795del | ||
| ENST00000458009.6:c.791-4_795del | ||
| ENST00000492474.6:c.68-4_72del | ||
| ENST00000616768.6:c.791-4_795del | ||
| ENST00000673673.2:c.791-4_795del | ||
| ENST00000231790.8:c.791-4_795del | ||
| ENST00000413212.2:c.67+2958_67+2966del | ENSP00000400844.2:n.67+2958_67+2966del | |
| ENST00000432299.6:c.*870+2958_*870+2966del | ENSP00000416783.1:n.*870+2958_*870+2966del | |
| ENST00000441265.6:c.68-4_72del | ||
| ENST00000442249.6:n.693-2808_693-2800del | ||
| ENST00000447829.6:c.428-2808_428-2800del | ENSP00000399329.2:n.428-2808_428-2800del | |
| ENST00000539477.6:c.68-4_72del | ||
| ENST00000673673.1:c.744-4_748del | ||
| ENST00000673713.1:n.822-4_826del | ||
| ENST00000673715.1:c.791-4_795del | ||
| ENST00000673889.1:n.169_177del | ||
| ENST00000673897.1:c.*583-4_*587del | ||
| ENST00000673899.1:c.677+5403_677+5411del | ENSP00000501030.1:n.677+5403_677+5411del | |
| ENST00000673947.1:c.*931-4_*935del | ||
| ENST00000673972.1:c.*669-4_*673del | ||
| ENST00000673990.1:n.776-2808_776-2800del | ||
| ENST00000674019.1:c.68-4_72del | ||
| ENST00000674107.1:n.733-2808_733-2800del | ||
| ENST00000674111.1:c.791-4_795del | ||
| ENST00000231790.6:c.791-4_795del | ||
| ENST00000413212.1:c.113+2958_113+2966del | ||
| ENST00000435176.5:c.497-4_501del | ||
| ENST00000441265.5:c.68-4_72del | ||
| ENST00000447829.5:c.172-2808_172-2800del | ||
| ENST00000455445.6:c.68-4_72del | ||
| ENST00000456676.6:c.766-4_770del | ||
| ENST00000458009.5:c.132-4_136del | ||
| ENST00000458205.6:c.68-4_72del | ||
| ENST00000536378.5:c.68-4_72del | ||
| ENST00000539477.5:c.68-4_72del | ||
| NM_000249.3:c.791-4_795del , LRG_216t1:c.791-4_795del | ||
| NM_001167617.1:c.497-4_501del | ||
| NM_001167618.1:c.68-4_72del | ||
| NM_001167619.1:c.68-4_72del | ||
| NM_001258271.1:c.791-4_795del | ||
| NM_001258273.1:c.68-4_72del | ||
| NM_001258274.1:c.68-4_72del | ||
| XM_005265161.1:c.678-2808_678-2800del | XP_005265218.1:n.678-2808_678-2800del | |
| XM_005265163.1:c.68-4_72del | ||
| XM_005265164.1:c.68-4_72del | ||
| XM_005265166.1:c.-139-2808_-139-2800del | XP_005265223.1:n.-139-2808_-139-2800del | |
| XM_011533727.1:c.-37+2958_-37+2966del | XP_011532029.1:n.-37+2958_-37+2966del | |
| NM_001167617.2:c.497-4_501del | ||
| NM_001167618.2:c.68-4_72del | ||
| NM_001167619.2:c.68-4_72del | ||
| NM_001258274.2:c.68-4_72del | ||
| NM_001354615.1:c.68-4_72del | ||
| NM_001354616.1:c.68-4_72del | ||
| NM_001354617.1:c.68-4_72del | ||
| NM_001354618.1:c.68-4_72del | ||
| NM_001354619.1:c.68-4_72del | ||
| NM_001354620.1:c.497-4_501del | ||
| NM_001354621.1:c.-139-2808_-139-2800del | NP_001341550.1:n.-139-2808_-139-2800del | |
| NM_001354622.1:c.-139-2808_-139-2800del | NP_001341551.1:n.-139-2808_-139-2800del | |
| NM_001354623.1:c.-139-2808_-139-2800del | NP_001341552.1:n.-139-2808_-139-2800del | |
| NM_001354624.1:c.-37+2958_-37+2966del | NP_001341553.1:n.-37+2958_-37+2966del | |
| NM_001354625.1:c.-37+2958_-37+2966del | NP_001341554.1:n.-37+2958_-37+2966del | |
| NM_001354626.1:c.-37+2958_-37+2966del | NP_001341555.1:n.-37+2958_-37+2966del | |
| NM_001354627.1:c.-37+2958_-37+2966del | NP_001341556.1:n.-37+2958_-37+2966del | |
| NM_001354628.1:c.791-4_795del | ||
| NM_001354629.1:c.692-4_696del | ||
| NM_001354630.1:c.791-4_795del | ||
| XM_005265161.2:c.678-2808_678-2800del | XP_005265218.1:n.678-2808_678-2800del | |
| XM_017006450.2:c.-139-2808_-139-2800del | XP_016861939.1:n.-139-2808_-139-2800del | |
| NM_000249.4:c.791-4_795del | ||
| NM_001167617.3:c.497-4_501del | ||
| NM_001167618.3:c.68-4_72del | ||
| NM_001167619.3:c.68-4_72del | ||
| NM_001258271.2:c.791-4_795del | ||
| NM_001258273.2:c.68-4_72del | ||
| NM_001258274.3:c.68-4_72del | ||
| NM_001354615.2:c.68-4_72del | ||
| NM_001354616.2:c.68-4_72del | ||
| NM_001354617.2:c.68-4_72del | ||
| NM_001354618.2:c.68-4_72del | ||
| NM_001354619.2:c.68-4_72del | ||
| NM_001354620.2:c.497-4_501del | ||
| NM_001354621.2:c.-139-2808_-139-2800del | NP_001341550.1:n.-139-2808_-139-2800del | |
| NM_001354622.2:c.-139-2808_-139-2800del | NP_001341551.1:n.-139-2808_-139-2800del | |
| NM_001354623.2:c.-139-2808_-139-2800del | NP_001341552.1:n.-139-2808_-139-2800del | |
| NM_001354624.2:c.-37+2958_-37+2966del | NP_001341553.1:n.-37+2958_-37+2966del | |
| NM_001354625.2:c.-37+2958_-37+2966del | NP_001341554.1:n.-37+2958_-37+2966del | |
| NM_001354626.2:c.-37+2958_-37+2966del | NP_001341555.1:n.-37+2958_-37+2966del | |
| NM_001354627.2:c.-37+2958_-37+2966del | NP_001341556.1:n.-37+2958_-37+2966del | |
| NM_001354628.2:c.791-4_795del | ||
| NM_001354629.2:c.692-4_696del | ||
| NM_001354630.2:c.791-4_795del |