WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5995532_5995900del , CM000669.2:g.5995532_5995900del | GRCh38 |
| NC_000007.13:g.6035163_6035531del , CM000669.1:g.6035163_6035531del | GRCh37 |
| NC_000007.12:g.6001689_6002057del | NCBI36 |
| NG_008466.1:g.18207_18575del , LRG_161:g.18207_18575del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699814.2:c.*299+3208_*300-3475del | ENSP00000514615.2:n.*299+3208_*300-3475de... | |
| ENST00000699840.2:c.801-267_900+2del | ||
| ENST00000699930.2:c.696-267_795+2del | ||
| ENST00000406569.8:c.804-267_903+2del | ||
| ENST00000644110.2:c.*398-267_*497+2del | ||
| ENST00000699752.1:c.804-267_903+2del | ||
| ENST00000699753.1:c.*202+1426_*202+1794del | ENSP00000514562.1:n.*202+1426_*202+1794de... | |
| ENST00000699754.1:c.705+3208_706-3475del | ENSP00000514563.1:n.705+3208_706-3475del | |
| ENST00000699755.1:c.*203-267_*302+2del | ||
| ENST00000699756.1:c.*391-267_*490+2del | ||
| ENST00000699757.1:c.*61-267_*160+2del | ||
| ENST00000699758.1:c.*61-267_*160+2del | ||
| ENST00000699759.1:n.876-267_975+2del | ||
| ENST00000699760.1:c.486-267_585+2del | ||
| ENST00000699761.1:c.399-267_498+2del | ||
| ENST00000699762.1:c.231-267_330+2del | ||
| ENST00000699763.1:c.399-267_498+2del | ||
| ENST00000699764.1:c.804-267_903+2del | ||
| ENST00000699765.1:c.485+1426_485+1794del | ENSP00000514573.1:n.485+1426_485+1794del | |
| ENST00000699766.1:c.804-267_903+2del | ||
| ENST00000699767.1:c.804-267_903+2del | ||
| ENST00000699768.1:c.804-267_903+2del | ||
| ENST00000699811.1:c.399-267_498+2del | ||
| ENST00000699813.1:n.917-267_1016+2del | ||
| ENST00000699814.1:c.526+3208_527-3475del | ||
| ENST00000699815.1:c.*305-1296_*305-928del | ENSP00000514616.1:n.*305-1296_*305-928del... | |
| ENST00000699816.1:c.399-267_498+2del | ||
| ENST00000699817.1:c.*398-267_*497+2del | ||
| ENST00000699818.1:c.399-267_498+2del | ||
| ENST00000699819.1:c.*60+1426_*60+1794del | ENSP00000514620.1:n.*60+1426_*60+1794del | |
| ENST00000699820.1:c.804-267_903+2del | ||
| ENST00000699821.1:c.399-267_498+2del | ||
| ENST00000699822.1:c.*256-267_*355+2del | ||
| ENST00000699823.1:c.399-267_498+2del | ||
| ENST00000699824.1:c.*307-267_*406+2del | ||
| ENST00000699825.1:c.399-267_498+2del | ||
| ENST00000699826.1:c.*203-267_*302+2del | ||
| ENST00000699827.1:c.636-267_735+2del | ||
| ENST00000699828.1:c.804-267_903+2del | ||
| ENST00000699829.1:c.*305-267_*404+2del | ||
| ENST00000699830.1:c.*203-267_*302+2del | ||
| ENST00000699833.1:n.2309_2675+2del | ||
| ENST00000699837.1:c.399-267_498+2del | ||
| ENST00000699838.1:c.*704-267_*803+2del | ||
| ENST00000699839.1:c.990-267_1089+2del | ||
| ENST00000699840.1:c.801-267_900+2del | ||
| ENST00000699916.1:c.*61-267_*160+2del | ||
| ENST00000699917.1:c.*253-267_*352+2del | ||
| ENST00000699918.1:c.*305-267_*404+2del | ||
| ENST00000699919.1:c.*391-267_*490+2del | ||
| ENST00000699920.1:c.*440-267_*539+2del | ||
| ENST00000699928.1:c.804-267_903+2del | ||
| ENST00000699929.1:c.*105-267_*204+2del | ||
| ENST00000699930.1:c.696-267_795+2del | ||
| ENST00000699931.1:n.915-267_1014+2del | ||
| ENST00000699932.1:c.803+1426_803+1794del | ENSP00000514696.1:n.803+1426_803+1794del | |
| ENST00000699933.1:n.883+1426_883+1794del | ||
| ENST00000699951.1:c.803+1426_803+1794del | ENSP00000514706.1:n.803+1426_803+1794del | |
| ENST00000699952.1:c.803+1426_803+1794del | ENSP00000514707.1:n.803+1426_803+1794del | |
| ENST00000699953.1:c.706-267_*10+2del | ||
| ENST00000699954.1:c.*105-267_*204+2del | ||
| ENST00000265849.12:c.804-267_903+2del | ||
| ENST00000642292.1:c.399-267_498+2del | ||
| ENST00000642456.1:c.399-267_498+2del | ||
| ENST00000643595.1:c.*203-267_*302+2del | ||
| ENST00000644110.1:c.486-267_585+2del | ||
| ENST00000265849.11:c.804-267_903+2del | ||
| ENST00000382321.5:c.803+1426_803+1794del | ENSP00000371758.4:n.803+1426_803+1794del | |
| ENST00000406569.7:n.804-267_903+2del | ||
| ENST00000441476.6:c.486-267_585+2del | ||
| ENST00000469652.1:n.62+10093_62+10461del | ||
| NM_000535.5:c.804-267_903+2del , LRG_161t1:c.804-267_903+2del | ||
| NR_003085.2:n.886-267_985+2del | ||
| XM_006715742.2:c.798-267_897+2del | ||
| XM_011515427.1:c.849-267_948+2del | ||
| XM_011515428.1:c.849-267_948+2del | ||
| XM_011515429.1:c.486-267_585+2del | ||
| XM_011515430.1:c.486-267_585+2del | ||
| NM_000535.6:c.804-267_903+2del | ||
| NM_001322003.1:c.399-267_498+2del | ||
| NM_001322004.1:c.399-267_498+2del | ||
| NM_001322005.1:c.399-267_498+2del | ||
| NM_001322006.1:c.804-267_903+2del | ||
| NM_001322007.1:c.486-267_585+2del | ||
| NM_001322008.1:c.486-267_585+2del | ||
| NM_001322009.1:c.399-267_498+2del | ||
| NM_001322010.1:c.399-267_498+2del | ||
| NM_001322011.1:c.-130-267_-31+2del | ||
| NM_001322012.1:c.-130-267_-31+2del | ||
| NM_001322013.1:c.231-267_330+2del | ||
| NM_001322014.1:c.804-267_903+2del | ||
| NM_001322015.1:c.495-267_594+2del | ||
| NR_136154.1:n.891-267_990+2del | ||
| XM_017012342.2:c.-31+1426_-31+1794del | XP_016867831.1:n.-31+1426_-31+1794del | |
| XM_024446800.1:c.399-267_498+2del | ||
| NM_000535.7:c.804-267_903+2del | ||
| NM_001322003.2:c.399-267_498+2del | ||
| NM_001322004.2:c.399-267_498+2del | ||
| NM_001322005.2:c.399-267_498+2del | ||
| NM_001322006.2:c.804-267_903+2del | ||
| NM_001322008.2:c.486-267_585+2del | ||
| NM_001322009.2:c.399-267_498+2del | ||
| NM_001322010.2:c.399-267_498+2del | ||
| NM_001322011.2:c.-130-267_-31+2del | ||
| NM_001322012.2:c.-130-267_-31+2del | ||
| NM_001322013.2:c.231-267_330+2del | ||
| NM_001322014.2:c.804-267_903+2del | ||
| NM_001322015.2:c.495-267_594+2del | ||
| NM_001322007.2:c.486-267_585+2del |