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.37014506_37014509delinsACTC , CM000665.2:g.37014506_37014509delinsACTC | GRCh38 |
| NC_000003.11:g.37055997_37056000delinsACTC , CM000665.1:g.37055997_37056000delinsACTC | GRCh37 |
| NC_000003.10:g.37031001_37031004delinsACTC | NCBI36 |
| NG_007109.2:g.26157_26160delinsACTC , LRG_216:g.26157_26160delinsACTC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413740.2:c.752_755delinsACTC | ENSP00000416476.2:p.Tyr251= | |
| ENST00000429117.6:c.458_461delinsACTC | ENSP00000407019.2:p.Tyr153= | |
| ENST00000450420.6:c.752_755delinsACTC | ENSP00000393006.2:p.Tyr251= | |
| ENST00000456676.7:c.752_755delinsACTC | ENSP00000416687.3:p.Tyr251= | |
| ENST00000458009.6:c.752_755delinsACTC | ENSP00000411066.2:p.Tyr251= | |
| ENST00000492474.6:c.29_32delinsACTC | ENSP00000518393.1:p.Tyr10= | |
| ENST00000616768.6:c.752_755delinsACTC | ENSP00000480669.3:p.Tyr251= | |
| ENST00000673673.2:c.752_755delinsACTC | ENSP00000500979.2:p.Tyr251= | |
| ENST00000231790.8:c.752_755delinsACTC MANE Select | ENSP00000231790.3:p.Tyr251= | |
| ENST00000413212.2:c.29_32delinsACTC | ENSP00000400844.2:p.Tyr10= | |
| ENST00000432299.6:c.*832_*835delinsACTC | ENSP00000416783.1:n.*832_*835delinsACTC | |
| ENST00000441265.6:c.29_32delinsACTC | ENSP00000398392.2:p.Tyr10= | |
| ENST00000442249.6:n.692+2407_692+2410delinsACTC | ||
| ENST00000447829.6:c.389_392delinsACTC | ENSP00000399329.2:p.Tyr130= | |
| ENST00000539477.6:c.29_32delinsACTC | ENSP00000443665.1:p.Tyr10= | |
| ENST00000673673.1:c.705_708delinsACTC | ||
| ENST00000673713.1:n.783_786delinsACTC | ||
| ENST00000673715.1:c.752_755delinsACTC | ENSP00000501301.1:p.Tyr251= | |
| ENST00000673897.1:c.*544_*547delinsACTC | ENSP00000501109.1:n.*544_*547delinsACTC | |
| ENST00000673899.1:c.677+2407_677+2410delinsACTC | ENSP00000501030.1:n.677+2407_677+2410deli... | |
| ENST00000673947.1:c.*892_*895delinsACTC | ENSP00000501304.1:n.*892_*895delinsACTC | |
| ENST00000673972.1:c.*630_*633delinsACTC | ENSP00000501281.1:n.*630_*633delinsACTC | |
| ENST00000673990.1:n.737_740delinsACTC | ||
| ENST00000674019.1:c.29_32delinsACTC | ENSP00000501081.1:p.Tyr10= | |
| ENST00000674107.1:n.694_697delinsACTC | ||
| ENST00000674111.1:c.752_755delinsACTC | ENSP00000501162.1:p.Tyr251= | |
| ENST00000231790.6:c.752_755delinsACTC | ENSP00000231790.2:p.Tyr251= | |
| ENST00000413212.1:c.75_78delinsACTC | ||
| ENST00000435176.5:c.458_461delinsACTC | ENSP00000402564.1:p.Tyr153= | |
| ENST00000441265.5:c.29_32delinsACTC | ENSP00000398392.1:p.Tyr10= | |
| ENST00000447829.5:c.133_136delinsACTC | ||
| ENST00000455445.6:c.29_32delinsACTC | ENSP00000398272.2:p.Tyr10= | |
| ENST00000456676.6:c.727_730delinsACTC | ||
| ENST00000458009.5:c.93_96delinsACTC | ||
| ENST00000458205.6:c.29_32delinsACTC | ENSP00000402667.2:p.Tyr10= | |
| ENST00000536378.5:c.29_32delinsACTC | ENSP00000444286.2:p.Tyr10= | |
| ENST00000539477.5:c.29_32delinsACTC | ENSP00000443665.1:p.Tyr10= | |
| NM_000249.3:c.752_755delinsACTC , LRG_216t1:c.752_755delinsACTC | NP_000240.1:p.Tyr251= | |
| NM_001167617.1:c.458_461delinsACTC | NP_001161089.1:p.Tyr153= | |
| NM_001167618.1:c.29_32delinsACTC | NP_001161090.1:p.Tyr10= | |
| NM_001167619.1:c.29_32delinsACTC | NP_001161091.1:p.Tyr10= | |
| NM_001258271.1:c.752_755delinsACTC | NP_001245200.1:p.Tyr251= | |
| NM_001258273.1:c.29_32delinsACTC | NP_001245202.1:p.Tyr10= | |
| NM_001258274.1:c.29_32delinsACTC | NP_001245203.1:p.Tyr10= | |
| XM_005265161.1:c.677+2407_677+2410delinsACTC | XP_005265218.1:n.677+2407_677+2410delinsA... | |
| XM_005265163.1:c.29_32delinsACTC | XP_005265220.1:p.Tyr10= | |
| XM_005265164.1:c.29_32delinsACTC | XP_005265221.1:p.Tyr10= | |
| XM_005265166.1:c.-178_-175delinsACTC | XP_005265223.1:n.-178_-175delinsACTC | |
| XM_011533727.1:c.-75_-72delinsACTC | XP_011532029.1:n.-75_-72delinsACTC | |
| NM_001167617.2:c.458_461delinsACTC | NP_001161089.1:p.Tyr153= | |
| NM_001167618.2:c.29_32delinsACTC | NP_001161090.1:p.Tyr10= | |
| NM_001167619.2:c.29_32delinsACTC | NP_001161091.1:p.Tyr10= | |
| NM_001258274.2:c.29_32delinsACTC | NP_001245203.1:p.Tyr10= | |
| NM_001354615.1:c.29_32delinsACTC | NP_001341544.1:p.Tyr10= | |
| NM_001354616.1:c.29_32delinsACTC | NP_001341545.1:p.Tyr10= | |
| NM_001354617.1:c.29_32delinsACTC | NP_001341546.1:p.Tyr10= | |
| NM_001354618.1:c.29_32delinsACTC | NP_001341547.1:p.Tyr10= | |
| NM_001354619.1:c.29_32delinsACTC | NP_001341548.1:p.Tyr10= | |
| NM_001354620.1:c.458_461delinsACTC | NP_001341549.1:p.Tyr153= | |
| NM_001354621.1:c.-140+2407_-140+2410delinsACTC | NP_001341550.1:n.-140+2407_-140+2410delin... | |
| NM_001354622.1:c.-178_-175delinsACTC | NP_001341551.1:n.-178_-175delinsACTC | |
| NM_001354623.1:c.-178_-175delinsACTC | NP_001341552.1:n.-178_-175delinsACTC | |
| NM_001354624.1:c.-75_-72delinsACTC | NP_001341553.1:n.-75_-72delinsACTC | |
| NM_001354625.1:c.-75_-72delinsACTC | NP_001341554.1:n.-75_-72delinsACTC | |
| NM_001354626.1:c.-75_-72delinsACTC | NP_001341555.1:n.-75_-72delinsACTC | |
| NM_001354627.1:c.-75_-72delinsACTC | NP_001341556.1:n.-75_-72delinsACTC | |
| NM_001354628.1:c.752_755delinsACTC | NP_001341557.1:p.Tyr251= | |
| NM_001354629.1:c.653_656delinsACTC | NP_001341558.1:p.Tyr218= | |
| NM_001354630.1:c.752_755delinsACTC | NP_001341559.1:p.Tyr251= | |
| XM_005265161.2:c.677+2407_677+2410delinsACTC | XP_005265218.1:n.677+2407_677+2410delinsA... | |
| XM_017006450.2:c.-140+2407_-140+2410delinsACTC | XP_016861939.1:n.-140+2407_-140+2410delin... | |
| NM_000249.4:c.752_755delinsACTC MANE Select | NP_000240.1:p.Tyr251= | |
| NM_001167617.3:c.458_461delinsACTC | NP_001161089.1:p.Tyr153= | |
| NM_001167618.3:c.29_32delinsACTC | NP_001161090.1:p.Tyr10= | |
| NM_001167619.3:c.29_32delinsACTC | NP_001161091.1:p.Tyr10= | |
| NM_001258271.2:c.752_755delinsACTC | NP_001245200.1:p.Tyr251= | |
| NM_001258273.2:c.29_32delinsACTC | NP_001245202.1:p.Tyr10= | |
| NM_001258274.3:c.29_32delinsACTC | NP_001245203.1:p.Tyr10= | |
| NM_001354615.2:c.29_32delinsACTC | NP_001341544.1:p.Tyr10= | |
| NM_001354616.2:c.29_32delinsACTC | NP_001341545.1:p.Tyr10= | |
| NM_001354617.2:c.29_32delinsACTC | NP_001341546.1:p.Tyr10= | |
| NM_001354618.2:c.29_32delinsACTC | NP_001341547.1:p.Tyr10= | |
| NM_001354619.2:c.29_32delinsACTC | NP_001341548.1:p.Tyr10= | |
| NM_001354620.2:c.458_461delinsACTC | NP_001341549.1:p.Tyr153= | |
| NM_001354621.2:c.-140+2407_-140+2410delinsACTC | NP_001341550.1:n.-140+2407_-140+2410delin... | |
| NM_001354622.2:c.-178_-175delinsACTC | NP_001341551.1:n.-178_-175delinsACTC | |
| NM_001354623.2:c.-178_-175delinsACTC | NP_001341552.1:n.-178_-175delinsACTC | |
| NM_001354624.2:c.-75_-72delinsACTC | NP_001341553.1:n.-75_-72delinsACTC | |
| NM_001354625.2:c.-75_-72delinsACTC | NP_001341554.1:n.-75_-72delinsACTC | |
| NM_001354626.2:c.-75_-72delinsACTC | NP_001341555.1:n.-75_-72delinsACTC | |
| NM_001354627.2:c.-75_-72delinsACTC | NP_001341556.1:n.-75_-72delinsACTC | |
| NM_001354628.2:c.752_755delinsACTC | NP_001341557.1:p.Tyr251= | |
| NM_001354629.2:c.653_656delinsACTC | NP_001341558.1:p.Tyr218= | |
| NM_001354630.2:c.752_755delinsACTC | NP_001341559.1:p.Tyr251= |