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.
Linked Data
gnomAD v3:
5-112834227-C-CTGTGCCCGGCCACATGCCGGGCCTTAAT
gnomAD v4:
5-112834227-C-CTGTGCCCGGCCACATGCCGGGCCTTAAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112834227_112834228insTGTGCCCGGCCACATGCCGGGCCTTAAT , CM000667.2:g.112834227_112834228insTGTGCCCGGCCACATGCCGGGCCTTAAT | GRCh38 |
| NC_000005.9:g.112169924_112169925insTGTGCCCGGCCACATGCCGGGCCTTAAT , CM000667.1:g.112169924_112169925insTGTGCCCGGCCACATGCCGGGCCTTAAT | GRCh37 |
| NC_000005.8:g.112197823_112197824insTGTGCCCGGCCACATGCCGGGCCTTAAT | NCBI36 |
| NG_008481.4:g.146707_146708insTGTGCCCGGCCACATGCCGGGCCTTAAT , LRG_130:g.146707_146708insTGTGCCCGGCCACATGCCGGGCCTTAAT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000502371.3:c.1409-724_1409-723insTGTGCCCGGCCACATGCCGGGCCTTAAT | ENSP00000484935.2:n.1409-724_1409-723insTGTGCCCGGCCACATGCCGGG... | |
| ENST00000504915.3:c.1798-724_1798-723insTGTGCCCGGCCACATGCCGGGCCTTAAT | ENSP00000473355.2:n.1798-724_1798-723insTGTGCCCGGCCACATGCCGGG... | |
| ENST00000505350.2:c.*1750-724_*1750-723insTGTGCCCGGCCACATGCCGGGCCTTAAT | ENSP00000481752.1:n.*1750-724_*1750-723insTGTGCCCGGCCACATGCCG... | |
| ENST00000507379.6:c.1690-724_1690-723insTGTGCCCGGCCACATGCCGGGCCTTAAT | ENSP00000423224.2:n.1690-724_1690-723insTGTGCCCGGCCACATGCCGGG... | |
| ENST00000509732.6:c.1744-724_1744-723insTGTGCCCGGCCACATGCCGGGCCTTAAT | ENSP00000426541.2:n.1744-724_1744-723insTGTGCCCGGCCACATGCCGGG... | |
| ENST00000512211.7:c.1744-724_1744-723insTGTGCCCGGCCACATGCCGGGCCTTAAT | ENSP00000423828.3:n.1744-724_1744-723insTGTGCCCGGCCACATGCCGGG... | |
| ENST00000257430.9:c.1744-724_1744-723insTGTGCCCGGCCACATGCCGGGCCTTAAT MANE Select | ENSP00000257430.4:n.1744-724_1744-723insTGTGCCCGGCCACATGCCGGG... | |
| ENST00000257430.8:c.1744-724_1744-723insTGTGCCCGGCCACATGCCGGGCCTTAAT | ENSP00000257430.4:n.1744-724_1744-723insTGTGCCCGGCCACATGCCGGG... | |
| ENST00000502371.2:c.97-724_97-723insTGTGCCCGGCCACATGCCGGGCCTTAAT | ||
| ENST00000504915.2:c.433-724_433-723insTGTGCCCGGCCACATGCCGGGCCTTAAT | ENSP00000473355.1:n.433-724_433-723insTGTGCCCGGCCACATGCCGGGCC... | |
| ENST00000507379.5:c.1690-724_1690-723insTGTGCCCGGCCACATGCCGGGCCTTAAT | ENSP00000423224.1:n.1690-724_1690-723insTGTGCCCGGCCACATGCCGGG... | |
| ENST00000508376.6:c.1744-724_1744-723insTGTGCCCGGCCACATGCCGGGCCTTAAT | ENSP00000427089.2:n.1744-724_1744-723insTGTGCCCGGCCACATGCCGGG... | |
| ENST00000508624.5:c.*1066-724_*1066-723insTGTGCCCGGCCACATGCCGGGCCTTAAT | ENSP00000424265.1:n.*1066-724_*1066-723insTGTGCCCGGCCACATGCCG... | |
| ENST00000512211.6:c.1744-724_1744-723insTGTGCCCGGCCACATGCCGGGCCTTAAT | ENSP00000423828.2:n.1744-724_1744-723insTGTGCCCGGCCACATGCCGGG... | |
| ENST00000520401.1:c.230+5255_230+5256insTGTGCCCGGCCACATGCCGGGCCTTAAT | ||
| NM_000038.5:c.1744-724_1744-723insTGTGCCCGGCCACATGCCGGGCCTTAAT | NP_000029.2:n.1744-724_1744-723insTGTGCCCGGCCACATGCCGGGCCTTAA... | |
| NM_001127510.2:c.1744-724_1744-723insTGTGCCCGGCCACATGCCGGGCCTTAAT | NP_001120982.1:n.1744-724_1744-723insTGTGCCCGGCCACATGCCGGGCCT... | |
| NM_001127511.2:c.1690-724_1690-723insTGTGCCCGGCCACATGCCGGGCCTTAAT | NP_001120983.2:n.1690-724_1690-723insTGTGCCCGGCCACATGCCGGGCCT... | |
| NM_001354895.1:c.1744-724_1744-723insTGTGCCCGGCCACATGCCGGGCCTTAAT | NP_001341824.1:n.1744-724_1744-723insTGTGCCCGGCCACATGCCGGGCCT... | |
| NM_001354896.1:c.1798-724_1798-723insTGTGCCCGGCCACATGCCGGGCCTTAAT | NP_001341825.1:n.1798-724_1798-723insTGTGCCCGGCCACATGCCGGGCCT... | |
| NM_001354897.1:c.1774-724_1774-723insTGTGCCCGGCCACATGCCGGGCCTTAAT | NP_001341826.1:n.1774-724_1774-723insTGTGCCCGGCCACATGCCGGGCCT... | |
| NM_001354898.1:c.1669-724_1669-723insTGTGCCCGGCCACATGCCGGGCCTTAAT | NP_001341827.1:n.1669-724_1669-723insTGTGCCCGGCCACATGCCGGGCCT... | |
| NM_001354899.1:c.1660-724_1660-723insTGTGCCCGGCCACATGCCGGGCCTTAAT | NP_001341828.1:n.1660-724_1660-723insTGTGCCCGGCCACATGCCGGGCCT... | |
| NM_001354900.1:c.1621-724_1621-723insTGTGCCCGGCCACATGCCGGGCCTTAAT | NP_001341829.1:n.1621-724_1621-723insTGTGCCCGGCCACATGCCGGGCCT... | |
| NM_001354901.1:c.1567-724_1567-723insTGTGCCCGGCCACATGCCGGGCCTTAAT | NP_001341830.1:n.1567-724_1567-723insTGTGCCCGGCCACATGCCGGGCCT... | |
| NM_001354902.1:c.1471-724_1471-723insTGTGCCCGGCCACATGCCGGGCCTTAAT | NP_001341831.1:n.1471-724_1471-723insTGTGCCCGGCCACATGCCGGGCCT... | |
| NM_001354903.1:c.1441-724_1441-723insTGTGCCCGGCCACATGCCGGGCCTTAAT | NP_001341832.1:n.1441-724_1441-723insTGTGCCCGGCCACATGCCGGGCCT... | |
| NM_001354904.1:c.1366-724_1366-723insTGTGCCCGGCCACATGCCGGGCCTTAAT | NP_001341833.1:n.1366-724_1366-723insTGTGCCCGGCCACATGCCGGGCCT... | |
| NM_001354905.1:c.1264-724_1264-723insTGTGCCCGGCCACATGCCGGGCCTTAAT | NP_001341834.1:n.1264-724_1264-723insTGTGCCCGGCCACATGCCGGGCCT... | |
| NM_001354906.1:c.895-724_895-723insTGTGCCCGGCCACATGCCGGGCCTTAAT | NP_001341835.1:n.895-724_895-723insTGTGCCCGGCCACATGCCGGGCCTTA... | |
| NM_000038.6:c.1744-724_1744-723insTGTGCCCGGCCACATGCCGGGCCTTAAT MANE Select | NP_000029.2:n.1744-724_1744-723insTGTGCCCGGCCACATGCCGGGCCTTAA... | |
| NM_001127510.3:c.1744-724_1744-723insTGTGCCCGGCCACATGCCGGGCCTTAAT | NP_001120982.1:n.1744-724_1744-723insTGTGCCCGGCCACATGCCGGGCCT... | |
| NM_001127511.3:c.1690-724_1690-723insTGTGCCCGGCCACATGCCGGGCCTTAAT | NP_001120983.2:n.1690-724_1690-723insTGTGCCCGGCCACATGCCGGGCCT... | |
| NM_001354895.2:c.1744-724_1744-723insTGTGCCCGGCCACATGCCGGGCCTTAAT | NP_001341824.1:n.1744-724_1744-723insTGTGCCCGGCCACATGCCGGGCCT... | |
| NM_001354896.2:c.1798-724_1798-723insTGTGCCCGGCCACATGCCGGGCCTTAAT | NP_001341825.1:n.1798-724_1798-723insTGTGCCCGGCCACATGCCGGGCCT... | |
| NM_001354897.2:c.1774-724_1774-723insTGTGCCCGGCCACATGCCGGGCCTTAAT | NP_001341826.1:n.1774-724_1774-723insTGTGCCCGGCCACATGCCGGGCCT... | |
| NM_001354898.2:c.1669-724_1669-723insTGTGCCCGGCCACATGCCGGGCCTTAAT | NP_001341827.1:n.1669-724_1669-723insTGTGCCCGGCCACATGCCGGGCCT... | |
| NM_001354899.2:c.1660-724_1660-723insTGTGCCCGGCCACATGCCGGGCCTTAAT | NP_001341828.1:n.1660-724_1660-723insTGTGCCCGGCCACATGCCGGGCCT... | |
| NM_001354900.2:c.1621-724_1621-723insTGTGCCCGGCCACATGCCGGGCCTTAAT | NP_001341829.1:n.1621-724_1621-723insTGTGCCCGGCCACATGCCGGGCCT... | |
| NM_001354901.2:c.1567-724_1567-723insTGTGCCCGGCCACATGCCGGGCCTTAAT | NP_001341830.1:n.1567-724_1567-723insTGTGCCCGGCCACATGCCGGGCCT... | |
| NM_001354902.2:c.1471-724_1471-723insTGTGCCCGGCCACATGCCGGGCCTTAAT | NP_001341831.1:n.1471-724_1471-723insTGTGCCCGGCCACATGCCGGGCCT... | |
| NM_001354903.2:c.1441-724_1441-723insTGTGCCCGGCCACATGCCGGGCCTTAAT | NP_001341832.1:n.1441-724_1441-723insTGTGCCCGGCCACATGCCGGGCCT... | |
| NM_001354904.2:c.1366-724_1366-723insTGTGCCCGGCCACATGCCGGGCCTTAAT | NP_001341833.1:n.1366-724_1366-723insTGTGCCCGGCCACATGCCGGGCCT... | |
| NM_001354905.2:c.1264-724_1264-723insTGTGCCCGGCCACATGCCGGGCCTTAAT | NP_001341834.1:n.1264-724_1264-723insTGTGCCCGGCCACATGCCGGGCCT... | |
| NM_001354906.2:c.895-724_895-723insTGTGCCCGGCCACATGCCGGGCCTTAAT | NP_001341835.1:n.895-724_895-723insTGTGCCCGGCCACATGCCGGGCCTTA... |