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.21845449_21845450insCATAAGAAATATTTAAATATAATGTTTAGACTTGTAT , CM000674.2:g.21845449_21845450insCATAAGAAATATTTAAATATAATGTTTAGACTTGTAT | GRCh38 |
| NC_000012.11:g.21998383_21998384insCATAAGAAATATTTAAATATAATGTTTAGACTTGTAT , CM000674.1:g.21998383_21998384insCATAAGAAATATTTAAATATAATGTTTAGACTTGTAT | GRCh37 |
| NC_000012.10:g.21889650_21889651insCATAAGAAATATTTAAATATAATGTTTAGACTTGTAT | NCBI36 |
| NG_012819.1:g.96248_96249insCAAGTCTAAACATTATATTTAAATATTTCTTATGATA , LRG_377:g.96248_96249insCAAGTCTAAACATTATATTTAAATATTTCTTATGATA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261201.10:c.3096+156_3096+157insCAAGTCTAAACATTATATTTAAATATTTCTTATGATA | ENSP00000261201.4:n.3096+156_3096+157insCAAGTCTAAACATTATATTTA... | |
| ENST00000682068.1:c.3096+156_3096+157insCAAGTCTAAACATTATATTTAAATATTTCTTATGATA | ENSP00000507226.1:n.3096+156_3096+157insCAAGTCTAAACATTATATTTA... | |
| ENST00000682426.1:n.673+156_673+157insCAAGTCTAAACATTATATTTAAATATTTCTTATGATA | ||
| ENST00000682879.1:c.*2194+156_*2194+157insCAAGTCTAAACATTATATTTAAATATTTCTTATGATA | ENSP00000508210.1:n.*2194+156_*2194+157insCAAGTCTAAACATTATATT... | |
| ENST00000683105.1:c.3096+156_3096+157insCAAGTCTAAACATTATATTTAAATATTTCTTATGATA | ENSP00000506801.1:n.3096+156_3096+157insCAAGTCTAAACATTATATTTA... | |
| ENST00000683676.1:c.3096+156_3096+157insCAAGTCTAAACATTATATTTAAATATTTCTTATGATA | ENSP00000508167.1:n.3096+156_3096+157insCAAGTCTAAACATTATATTTA... | |
| ENST00000683811.1:n.2597+156_2597+157insCAAGTCTAAACATTATATTTAAATATTTCTTATGATA | ||
| ENST00000684084.1:c.3045+156_3045+157insCAAGTCTAAACATTATATTTAAATATTTCTTATGATA | ENSP00000507859.1:n.3045+156_3045+157insCAAGTCTAAACATTATATTTA... | |
| ENST00000261200.9:c.3096+156_3096+157insCAAGTCTAAACATTATATTTAAATATTTCTTATGATA MANE Select | ENSP00000261200.4:n.3096+156_3096+157insCAAGTCTAAACATTATATTTA... | |
| ENST00000261201.9:c.3096+156_3096+157insCAAGTCTAAACATTATATTTAAATATTTCTTATGATA | ENSP00000261201.4:n.3096+156_3096+157insCAAGTCTAAACATTATATTTA... | |
| ENST00000261200.8:c.3096+156_3096+157insCAAGTCTAAACATTATATTTAAATATTTCTTATGATA | ENSP00000261200.4:n.3096+156_3096+157insCAAGTCTAAACATTATATTTA... | |
| ENST00000261201.8:c.3096+156_3096+157insCAAGTCTAAACATTATATTTAAATATTTCTTATGATA | ENSP00000261201.4:n.3096+156_3096+157insCAAGTCTAAACATTATATTTA... | |
| ENST00000544039.5:c.1977+156_1977+157insCAAGTCTAAACATTATATTTAAATATTTCTTATGATA | ENSP00000440521.1:n.1977+156_1977+157insCAAGTCTAAACATTATATTTA... | |
| NM_005691.3:c.3096+156_3096+157insCAAGTCTAAACATTATATTTAAATATTTCTTATGATA | NP_005682.2:n.3096+156_3096+157insCAAGTCTAAACATTATATTTAAATATT... | |
| NM_020297.3:c.3096+156_3096+157insCAAGTCTAAACATTATATTTAAATATTTCTTATGATA | NP_064693.2:n.3096+156_3096+157insCAAGTCTAAACATTATATTTAAATATT... | |
| XM_005253284.2:c.3096+156_3096+157insCAAGTCTAAACATTATATTTAAATATTTCTTATGATA | XP_005253341.1:n.3096+156_3096+157insCAAGTCTAAACATTATATTTAAAT... | |
| XM_005253286.2:c.3096+156_3096+157insCAAGTCTAAACATTATATTTAAATATTTCTTATGATA | XP_005253343.1:n.3096+156_3096+157insCAAGTCTAAACATTATATTTAAAT... | |
| XM_005253287.3:c.3096+156_3096+157insCAAGTCTAAACATTATATTTAAATATTTCTTATGATA | XP_005253344.1:n.3096+156_3096+157insCAAGTCTAAACATTATATTTAAAT... | |
| XM_005253288.2:c.3096+156_3096+157insCAAGTCTAAACATTATATTTAAATATTTCTTATGATA | XP_005253345.1:n.3096+156_3096+157insCAAGTCTAAACATTATATTTAAAT... | |
| XM_005253289.2:c.3057+156_3057+157insCAAGTCTAAACATTATATTTAAATATTTCTTATGATA | XP_005253346.1:n.3057+156_3057+157insCAAGTCTAAACATTATATTTAAAT... | |
| XM_005253290.2:c.2955+156_2955+157insCAAGTCTAAACATTATATTTAAATATTTCTTATGATA | XP_005253347.1:n.2955+156_2955+157insCAAGTCTAAACATTATATTTAAAT... | |
| XM_006719025.2:c.3057+156_3057+157insCAAGTCTAAACATTATATTTAAATATTTCTTATGATA | XP_006719088.1:n.3057+156_3057+157insCAAGTCTAAACATTATATTTAAAT... | |
| XM_011520545.1:c.3096+156_3096+157insCAAGTCTAAACATTATATTTAAATATTTCTTATGATA | XP_011518847.1:n.3096+156_3096+157insCAAGTCTAAACATTATATTTAAAT... | |
| XM_005253284.4:c.3096+156_3096+157insCAAGTCTAAACATTATATTTAAATATTTCTTATGATA | XP_005253341.1:n.3096+156_3096+157insCAAGTCTAAACATTATATTTAAAT... | |
| XM_005253286.4:c.3096+156_3096+157insCAAGTCTAAACATTATATTTAAATATTTCTTATGATA | XP_005253343.1:n.3096+156_3096+157insCAAGTCTAAACATTATATTTAAAT... | |
| XM_005253287.5:c.3096+156_3096+157insCAAGTCTAAACATTATATTTAAATATTTCTTATGATA | XP_005253344.1:n.3096+156_3096+157insCAAGTCTAAACATTATATTTAAAT... | |
| XM_005253288.4:c.3096+156_3096+157insCAAGTCTAAACATTATATTTAAATATTTCTTATGATA | XP_005253345.1:n.3096+156_3096+157insCAAGTCTAAACATTATATTTAAAT... | |
| XM_005253289.4:c.3057+156_3057+157insCAAGTCTAAACATTATATTTAAATATTTCTTATGATA | XP_005253346.1:n.3057+156_3057+157insCAAGTCTAAACATTATATTTAAAT... | |
| XM_005253290.4:c.2955+156_2955+157insCAAGTCTAAACATTATATTTAAATATTTCTTATGATA | XP_005253347.1:n.2955+156_2955+157insCAAGTCTAAACATTATATTTAAAT... | |
| XM_006719025.4:c.3057+156_3057+157insCAAGTCTAAACATTATATTTAAATATTTCTTATGATA | XP_006719088.1:n.3057+156_3057+157insCAAGTCTAAACATTATATTTAAAT... | |
| XM_011520545.3:c.3096+156_3096+157insCAAGTCTAAACATTATATTTAAATATTTCTTATGATA | XP_011518847.1:n.3096+156_3096+157insCAAGTCTAAACATTATATTTAAAT... | |
| NM_001377273.1:c.3096+156_3096+157insCAAGTCTAAACATTATATTTAAATATTTCTTATGATA | NP_001364202.1:n.3096+156_3096+157insCAAGTCTAAACATTATATTTAAAT... | |
| NM_001377274.1:c.2229+156_2229+157insCAAGTCTAAACATTATATTTAAATATTTCTTATGATA | NP_001364203.1:n.2229+156_2229+157insCAAGTCTAAACATTATATTTAAAT... | |
| NM_005691.4:c.3096+156_3096+157insCAAGTCTAAACATTATATTTAAATATTTCTTATGATA | NP_005682.2:n.3096+156_3096+157insCAAGTCTAAACATTATATTTAAATATT... | |
| NM_020297.4:c.3096+156_3096+157insCAAGTCTAAACATTATATTTAAATATTTCTTATGATA MANE Select | NP_064693.2:n.3096+156_3096+157insCAAGTCTAAACATTATATTTAAATATT... |