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_000011.10:g.95858077_95858078delinsTA , CM000673.2:g.95858077_95858078delinsTA | GRCh38 |
| NC_000011.9:g.95591241_95591242delinsTA , CM000673.1:g.95591241_95591242delinsTA | GRCh37 |
| NC_000011.8:g.95230889_95230890delinsTA | NCBI36 |
| NG_008333.1:g.71130_71131delinsTA , LRG_257:g.71130_71131delinsTA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000346299.10:c.571-443_571-442delinsTA MANE Select | ENSP00000345752.6:n.571-443_571-442delins... | |
| ENST00000393223.8:c.355-443_355-442delinsTA | ENSP00000376915.3:n.355-443_355-442delins... | |
| ENST00000444541.7:c.355-443_355-442delinsTA | ENSP00000396020.2:n.355-443_355-442delins... | |
| ENST00000470293.6:c.355-443_355-442delinsTA | ENSP00000502515.1:n.355-443_355-442delins... | |
| ENST00000481642.6:c.355-443_355-442delinsTA | ENSP00000502505.1:n.355-443_355-442delins... | |
| ENST00000484818.6:c.355-443_355-442delinsTA | ENSP00000501963.1:n.355-443_355-442delins... | |
| ENST00000495134.6:c.355-443_355-442delinsTA | ENSP00000501894.1:n.355-443_355-442delins... | |
| ENST00000497683.6:c.355-443_355-442delinsTA | ENSP00000501753.1:n.355-443_355-442delins... | |
| ENST00000674528.1:c.355-443_355-442delinsTA | ENSP00000501567.1:n.355-443_355-442delins... | |
| ENST00000674610.1:c.355-443_355-442delinsTA | ENSP00000501688.1:n.355-443_355-442delins... | |
| ENST00000674901.1:n.1266_1267delinsTA | ||
| ENST00000674924.1:c.355-443_355-442delinsTA | ENSP00000502433.1:n.355-443_355-442delins... | |
| ENST00000674950.1:c.*368-443_*368-442delinsTA | ENSP00000502425.1:n.*368-443_*368-442deli... | |
| ENST00000674968.1:c.355-443_355-442delinsTA | ENSP00000502567.1:n.355-443_355-442delins... | |
| ENST00000674974.1:c.*506-443_*506-442delinsTA | ENSP00000502337.1:n.*506-443_*506-442deli... | |
| ENST00000674989.1:c.355-443_355-442delinsTA | ENSP00000502829.1:n.355-443_355-442delins... | |
| ENST00000675022.1:c.468+3914_468+3915delinsTA | ENSP00000502722.1:n.468+3914_468+3915deli... | |
| ENST00000675024.1:n.1299_1300delinsTA | ||
| ENST00000675030.1:c.*3740-443_*3740-442delinsTA | ENSP00000502386.1:n.*3740-443_*3740-442de... | |
| ENST00000675034.1:n.1287_1288delinsTA | ||
| ENST00000675174.1:c.355-443_355-442delinsTA | ENSP00000502032.1:n.355-443_355-442delins... | |
| ENST00000675196.1:c.355-443_355-442delinsTA | ENSP00000501867.1:n.355-443_355-442delins... | |
| ENST00000675237.1:n.1291_1292delinsTA | ||
| ENST00000675288.1:c.223-443_223-442delinsTA | ENSP00000501942.1:n.223-443_223-442delins... | |
| ENST00000675320.1:c.*368-443_*368-442delinsTA | ENSP00000502076.1:n.*368-443_*368-442deli... | |
| ENST00000675362.1:c.355-443_355-442delinsTA | ENSP00000501989.1:n.355-443_355-442delins... | |
| ENST00000675413.1:n.1089_1090delinsTA | ||
| ENST00000675438.1:c.355-443_355-442delinsTA | ENSP00000502388.1:n.355-443_355-442delins... | |
| ENST00000675454.1:c.355-443_355-442delinsTA | ENSP00000501781.1:n.355-443_355-442delins... | |
| ENST00000675477.1:c.355-443_355-442delinsTA | ENSP00000501751.1:n.355-443_355-442delins... | |
| ENST00000675489.1:c.355-443_355-442delinsTA | ENSP00000501702.1:n.355-443_355-442delins... | |
| ENST00000675495.1:n.1200_1201delinsTA | ||
| ENST00000675636.1:c.355-443_355-442delinsTA | ENSP00000501850.1:n.355-443_355-442delins... | |
| ENST00000675652.1:c.355-443_355-442delinsTA | ENSP00000502694.1:n.355-443_355-442delins... | |
| ENST00000675660.1:c.223-443_223-442delinsTA | ENSP00000502824.1:n.223-443_223-442delins... | |
| ENST00000675767.1:n.1180_1181delinsTA | ||
| ENST00000675807.1:c.223-443_223-442delinsTA | ENSP00000501640.1:n.223-443_223-442delins... | |
| ENST00000675848.1:c.223-443_223-442delinsTA | ENSP00000502057.1:n.223-443_223-442delins... | |
| ENST00000675896.1:c.*484-443_*484-442delinsTA | ENSP00000502487.1:n.*484-443_*484-442deli... | |
| ENST00000675910.1:c.*509-443_*509-442delinsTA | ENSP00000502622.1:n.*509-443_*509-442deli... | |
| ENST00000675922.1:c.*462-443_*462-442delinsTA | ENSP00000502168.1:n.*462-443_*462-442deli... | |
| ENST00000675933.1:c.355-443_355-442delinsTA | ENSP00000502575.1:n.355-443_355-442delins... | |
| ENST00000675957.1:n.1190_1191delinsTA | ||
| ENST00000675981.1:c.355-443_355-442delinsTA | ENSP00000502204.1:n.355-443_355-442delins... | |
| ENST00000676027.1:c.223-443_223-442delinsTA | ENSP00000502405.1:n.223-443_223-442delins... | |
| ENST00000676146.1:c.*265+3914_*265+3915delinsTA | ENSP00000502583.1:n.*265+3914_*265+3915de... | |
| ENST00000676166.1:c.355-443_355-442delinsTA | ENSP00000501632.1:n.355-443_355-442delins... | |
| ENST00000676177.1:c.*484-443_*484-442delinsTA | ENSP00000501635.1:n.*484-443_*484-442deli... | |
| ENST00000676261.1:c.355-443_355-442delinsTA | ENSP00000501675.1:n.355-443_355-442delins... | |
| ENST00000676268.1:c.571-443_571-442delinsTA | ENSP00000502444.1:n.571-443_571-442delins... | |
| ENST00000676272.1:c.355-443_355-442delinsTA | ENSP00000501601.1:n.355-443_355-442delins... | |
| ENST00000676378.1:c.355-443_355-442delinsTA | ENSP00000502736.1:n.355-443_355-442delins... | |
| ENST00000676388.1:c.*311-443_*311-442delinsTA | ENSP00000501866.1:n.*311-443_*311-442deli... | |
| ENST00000676393.1:n.1164_1165delinsTA | ||
| ENST00000676432.1:n.1330_1331delinsTA | ||
| ENST00000676440.1:c.355-443_355-442delinsTA | ENSP00000501926.1:n.355-443_355-442delins... | |
| ENST00000346299.9:c.571-443_571-442delinsTA | ENSP00000345752.5:n.571-443_571-442delins... | |
| ENST00000352297.11:c.355-443_355-442delinsTA | ENSP00000343737.7:n.355-443_355-442delins... | |
| ENST00000393223.7:c.355-443_355-442delinsTA | ENSP00000376915.3:n.355-443_355-442delins... | |
| ENST00000409459.5:c.355-443_355-442delinsTA | ENSP00000386882.1:n.355-443_355-442delins... | |
| ENST00000444541.6:c.355-443_355-442delinsTA | ENSP00000396020.1:n.355-443_355-442delins... | |
| ENST00000484818.5:n.618-443_618-442delinsTA | ||
| NM_001243571.1:c.355-443_355-442delinsTA | NP_001230500.1:n.355-443_355-442delinsTA | |
| NM_016156.5:c.571-443_571-442delinsTA , LRG_257t1:c.571-443_571-442delinsTA | NP_057240.3:n.571-443_571-442delinsTA | |
| NM_201278.2:c.355-443_355-442delinsTA | NP_958435.1:n.355-443_355-442delinsTA | |
| NM_201281.2:c.355-443_355-442delinsTA | NP_958438.1:n.355-443_355-442delinsTA | |
| XM_005274374.1:c.355-443_355-442delinsTA | XP_005274431.1:n.355-443_355-442delinsTA | |
| XM_005274375.1:c.355-443_355-442delinsTA | XP_005274432.1:n.355-443_355-442delinsTA | |
| XM_006718934.1:c.355-443_355-442delinsTA | XP_006718997.1:n.355-443_355-442delinsTA | |
| XM_006718935.1:c.355-443_355-442delinsTA | XP_006718998.1:n.355-443_355-442delinsTA | |
| XM_006718936.2:c.355-443_355-442delinsTA | XP_006718999.1:n.355-443_355-442delinsTA | |
| XM_011543058.1:c.430-443_430-442delinsTA | XP_011541360.1:n.430-443_430-442delinsTA | |
| XM_011543059.1:c.430-443_430-442delinsTA | XP_011541361.1:n.430-443_430-442delinsTA | |
| XM_005274374.3:c.355-443_355-442delinsTA | XP_005274431.1:n.355-443_355-442delinsTA | |
| XM_005274375.3:c.355-443_355-442delinsTA | XP_005274432.1:n.355-443_355-442delinsTA | |
| NM_001243571.2:c.355-443_355-442delinsTA | NP_001230500.1:n.355-443_355-442delinsTA | |
| NM_016156.6:c.571-443_571-442delinsTA MANE Select | NP_057240.3:n.571-443_571-442delinsTA | |
| NM_201278.3:c.355-443_355-442delinsTA | NP_958435.1:n.355-443_355-442delinsTA | |
| NM_201281.3:c.355-443_355-442delinsTA | NP_958438.1:n.355-443_355-442delinsTA |