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.108327756_108327794delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT , CM000673.2:g.108327756_108327794delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT | GRCh38 |
| NC_000011.9:g.108198483_108198521delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT , CM000673.1:g.108198483_108198521delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT | GRCh37 |
| NC_000011.8:g.107703693_107703731delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT | NCBI36 |
| NG_009830.1:g.109925_109963delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT , LRG_135:g.109925_109963delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT | |
| NG_054724.1:g.147039_147077delinsAAGTAACTATCTTAAGGGTTGCTCCAAAAATCTTACCTT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452508.7:c.7087_7089+36delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT (ATM) | ||
| ENST00000713593.1:c.*6558_*6560+36delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT (ATM) | ||
| ENST00000278616.9:c.7087_7089+36delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT (ATM) | ||
| ENST00000525056.2:n.1506_1508+36delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT (ATM) | ||
| ENST00000525537.3:n.44_46+36delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT (ATM) | ||
| ENST00000682286.1:n.1844_1846+36delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT (ATM) | ||
| ENST00000682302.1:n.1505_1507+36delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT (ATM) | ||
| ENST00000683174.1:n.8571_8573+36delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT (ATM) | ||
| ENST00000683524.1:n.2311_2313+36delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT (ATM) | ||
| ENST00000684152.1:n.2801_2803+36delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT (ATM) | ||
| ENST00000684447.1:n.1550_1552+36delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT (ATM) | ||
| ENST00000527805.6:c.*2151_*2153+36delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT (ATM) | ||
| ENST00000675595.1:c.*2222_*2224+36delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT (ATM) | ||
| ENST00000675843.1:c.7087_7089+36delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT (ATM) | ||
| ENST00000278616.8:c.7087_7089+36delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT (ATM) | ||
| ENST00000452508.6:c.7087_7089+36delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT (ATM) | ||
| ENST00000524792.5:n.3302_3304+36delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT (ATM) | ||
| ENST00000525537.2:n.363_365+36delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT (ATM) | ||
| ENST00000525729.5:c.641-18723_641-18685delinsAAGTAACTATCTTAAGGGTTGCTCCAAAAATCTTACCTT (C11orf65) | ENSP00000433395.1:n.641-18723_641-18685de... | |
| ENST00000527389.2:n.112_114+36delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT (ATM) | ||
| ENST00000533690.5:n.2491_2493+36delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT (ATM) | ||
| NM_000051.3:c.7087_7089+36delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT , LRG_135t1:c.7087_7089+36delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT (ATM) | ||
| XM_005271561.3:c.7087_7089+36delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT (ATM) | ||
| XM_005271562.3:c.7087_7089+36delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT (ATM) | ||
| XM_006718843.2:c.7087_7089+36delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT (ATM) | ||
| XM_006718845.1:c.3043_3045+36delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT (ATM) | ||
| XM_011542840.1:c.7087_7089+36delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT (ATM) | ||
| XM_011542841.1:c.7087_7089+36delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT (ATM) | ||
| XM_011542842.1:c.6922_6924+36delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT (ATM) | ||
| XM_011542843.1:c.7087_7089+36delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT (ATM) | ||
| XM_011542844.1:c.6043_6045+36delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT (ATM) | ||
| XM_011542845.1:c.5779_5781+36delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT (ATM) | ||
| XM_011542847.1:c.2158_2160+36delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT (ATM) | ||
| NM_001330368.1:c.641-18723_641-18685delinsAAGTAACTATCTTAAGGGTTGCTCCAAAAATCTTACCTT (C11orf65) | NP_001317297.1:n.641-18723_641-18685delin... | |
| NM_001351110.1:c.*38+7426_*38+7464delinsAAGTAACTATCTTAAGGGTTGCTCCAAAAATCTTACCTT (C11orf65) | NP_001338039.1:n.*38+7426_*38+7464delinsA... | |
| NM_001351834.1:c.7087_7089+36delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT (ATM) | ||
| XM_005271562.5:c.7087_7089+36delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT (ATM) | ||
| XM_006718843.4:c.7087_7089+36delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT (ATM) | ||
| XM_006718845.2:c.3043_3045+36delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT (ATM) | ||
| XM_011542840.3:c.7087_7089+36delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT (ATM) | ||
| XM_011542842.3:c.6922_6924+36delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT (ATM) | ||
| XM_011542843.2:c.7087_7089+36delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT (ATM) | ||
| XM_011542844.3:c.6043_6045+36delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT (ATM) | ||
| XM_011542845.2:c.5779_5781+36delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT (ATM) | ||
| XM_017017789.2:c.7087_7089+36delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT (ATM) | ||
| XM_017017790.2:c.7087_7089+36delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT (ATM) | ||
| NM_001330368.2:c.641-18723_641-18685delinsAAGTAACTATCTTAAGGGTTGCTCCAAAAATCTTACCTT (C11orf65) | NP_001317297.1:n.641-18723_641-18685delin... | |
| NM_001351110.2:c.*38+7426_*38+7464delinsAAGTAACTATCTTAAGGGTTGCTCCAAAAATCTTACCTT (C11orf65) | NP_001338039.1:n.*38+7426_*38+7464delinsA... | |
| NM_001351834.2:c.7087_7089+36delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT (ATM) | ||
| NM_000051.4:c.7087_7089+36delinsAAGGTAAGATTTTTGGAGCAACCCTTAAGATAGTTACTT (ATM) |