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_000003.12:g.37000970_37000971del , CM000665.2:g.37000970_37000971del | GRCh38 |
| NC_000003.11:g.37042461_37042462del , CM000665.1:g.37042461_37042462del | GRCh37 |
| NC_000003.10:g.37017465_37017466del | NCBI36 |
| NG_007109.2:g.12621_12622del , LRG_216:g.12621_12622del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413740.2:c.223_224del | ENSP00000416476.2:p.Ile75CysfsTer3 | |
| ENST00000429117.6:c.-67_-66del | ENSP00000407019.2:n.-67_-66del | |
| ENST00000450420.6:c.223_224del | ENSP00000393006.2:p.Ile75CysfsTer3 | |
| ENST00000456676.7:c.223_224del | ENSP00000416687.3:p.Ile75CysfsTer3 | |
| ENST00000458009.6:c.223_224del | ENSP00000411066.2:p.Ile75CysfsTer3 | |
| ENST00000492474.6:c.-501_-500del | ENSP00000518393.1:n.-501_-500del | |
| ENST00000616768.6:c.223_224del | ENSP00000480669.3:p.Ile75CysfsTer3 | |
| ENST00000673673.2:c.223_224del | ENSP00000500979.2:p.Ile75CysfsTer3 | |
| ENST00000231790.8:c.223_224del MANE Select | ENSP00000231790.3:p.Ile75CysfsTer3 | |
| ENST00000413212.2:c.-501_-500del | ENSP00000400844.2:n.-501_-500del | |
| ENST00000432299.6:c.*303_*304del | ENSP00000416783.1:n.*303_*304del | |
| ENST00000441265.6:c.-501_-500del | ENSP00000398392.2:n.-501_-500del | |
| ENST00000442249.6:n.238_239del | ||
| ENST00000447829.6:c.-67_-66del | ENSP00000399329.2:n.-67_-66del | |
| ENST00000539477.6:c.-409_-408del | ENSP00000443665.1:n.-409_-408del | |
| ENST00000673673.1:c.176_177del | ||
| ENST00000673713.1:n.254_255del | ||
| ENST00000673715.1:c.223_224del | ENSP00000501301.1:p.Ile75CysfsTer3 | |
| ENST00000673897.1:c.*15_*16del | ENSP00000501109.1:n.*15_*16del | |
| ENST00000673899.1:c.223_224del | ENSP00000501030.1:p.Ile75CysfsTer3 | |
| ENST00000673947.1:c.*363_*364del | ENSP00000501304.1:n.*363_*364del | |
| ENST00000673972.1:c.*101_*102del | ENSP00000501281.1:n.*101_*102del | |
| ENST00000673990.1:n.208_209del | ||
| ENST00000674019.1:c.-501_-500del | ENSP00000501081.1:n.-501_-500del | |
| ENST00000674107.1:n.165_166del | ||
| ENST00000674111.1:c.223_224del | ENSP00000501162.1:p.Ile75CysfsTer3 | |
| ENST00000231790.6:c.223_224del | ENSP00000231790.2:p.Ile75CysfsTer3 | |
| ENST00000429117.5:c.-67_-66del | ENSP00000407019.1:n.-67_-66del | |
| ENST00000432299.5:c.*303_*304del | ENSP00000416783.1:n.*303_*304del | |
| ENST00000435176.5:c.-67_-66del | ENSP00000402564.1:n.-67_-66del | |
| ENST00000441265.5:c.-409_-408del | ENSP00000398392.1:n.-409_-408del | |
| ENST00000442249.5:c.*15_*16del | ENSP00000387511.1:n.*15_*16del | |
| ENST00000454028.5:c.*101_*102del | ENSP00000392649.1:n.*101_*102del | |
| ENST00000455445.6:c.-501_-500del | ENSP00000398272.2:n.-501_-500del | |
| ENST00000456676.6:c.198_199del | ||
| ENST00000457004.5:c.*86-3431_*86-3430del | ENSP00000407773.1:n.*86-3431_*86-3430del | |
| ENST00000458205.6:c.-501_-500del | ENSP00000402667.2:n.-501_-500del | |
| ENST00000466900.5:n.150_151del | ||
| ENST00000476172.5:n.345_346del | ||
| ENST00000485889.1:n.227_228del | ||
| ENST00000492474.5:n.246_247del | ||
| ENST00000536378.5:c.-501_-500del | ENSP00000444286.2:n.-501_-500del | |
| ENST00000539477.5:c.-409_-408del | ENSP00000443665.1:n.-409_-408del | |
| NM_000249.3:c.223_224del , LRG_216t1:c.223_224del | NP_000240.1:p.Ile75CysfsTer3 | |
| NM_001167617.1:c.-67_-66del | NP_001161089.1:n.-67_-66del | |
| NM_001167618.1:c.-501_-500del | NP_001161090.1:n.-501_-500del | |
| NM_001167619.1:c.-409_-408del | NP_001161091.1:n.-409_-408del | |
| NM_001258271.1:c.223_224del | NP_001245200.1:p.Ile75CysfsTer3 | |
| NM_001258273.1:c.-501_-500del | NP_001245202.1:n.-501_-500del | |
| NM_001258274.1:c.-501_-500del | NP_001245203.1:n.-501_-500del | |
| XM_005265161.1:c.223_224del | XP_005265218.1:p.Ile75CysfsTer3 | |
| XM_005265163.1:c.-501_-500del | XP_005265220.1:n.-501_-500del | |
| XM_005265164.1:c.-501_-500del | XP_005265221.1:n.-501_-500del | |
| XM_005265166.1:c.-707_-706del | XP_005265223.1:n.-707_-706del | |
| XM_011533727.1:c.-604_-603del | XP_011532029.1:n.-604_-603del | |
| NM_001167617.2:c.-67_-66del | NP_001161089.1:n.-67_-66del | |
| NM_001167618.2:c.-501_-500del | NP_001161090.1:n.-501_-500del | |
| NM_001167619.2:c.-409_-408del | NP_001161091.1:n.-409_-408del | |
| NM_001258274.2:c.-501_-500del | NP_001245203.1:n.-501_-500del | |
| NM_001354615.1:c.-404_-403del | NP_001341544.1:n.-404_-403del | |
| NM_001354616.1:c.-409_-408del | NP_001341545.1:n.-409_-408del | |
| NM_001354617.1:c.-501_-500del | NP_001341546.1:n.-501_-500del | |
| NM_001354618.1:c.-501_-500del | NP_001341547.1:n.-501_-500del | |
| NM_001354619.1:c.-501_-500del | NP_001341548.1:n.-501_-500del | |
| NM_001354620.1:c.-67_-66del | NP_001341549.1:n.-67_-66del | |
| NM_001354621.1:c.-594_-593del | NP_001341550.1:n.-594_-593del | |
| NM_001354622.1:c.-707_-706del | NP_001341551.1:n.-707_-706del | |
| NM_001354623.1:c.-707_-706del | NP_001341552.1:n.-707_-706del | |
| NM_001354624.1:c.-604_-603del | NP_001341553.1:n.-604_-603del | |
| NM_001354625.1:c.-507_-506del | NP_001341554.1:n.-507_-506del | |
| NM_001354626.1:c.-604_-603del | NP_001341555.1:n.-604_-603del | |
| NM_001354627.1:c.-604_-603del | NP_001341556.1:n.-604_-603del | |
| NM_001354628.1:c.223_224del | NP_001341557.1:p.Ile75CysfsTer3 | |
| NM_001354629.1:c.208-3431_208-3430del | NP_001341558.1:n.208-3431_208-3430del | |
| NM_001354630.1:c.223_224del | NP_001341559.1:p.Ile75CysfsTer3 | |
| XM_005265161.2:c.223_224del | XP_005265218.1:p.Ile75CysfsTer3 | |
| XM_017006450.2:c.-594_-593del | XP_016861939.1:n.-594_-593del | |
| NM_000249.4:c.223_224del MANE Select | NP_000240.1:p.Ile75CysfsTer3 | |
| NM_001167617.3:c.-67_-66del | NP_001161089.1:n.-67_-66del | |
| NM_001167618.3:c.-501_-500del | NP_001161090.1:n.-501_-500del | |
| NM_001167619.3:c.-409_-408del | NP_001161091.1:n.-409_-408del | |
| NM_001258271.2:c.223_224del | NP_001245200.1:p.Ile75CysfsTer3 | |
| NM_001258273.2:c.-501_-500del | NP_001245202.1:n.-501_-500del | |
| NM_001258274.3:c.-501_-500del | NP_001245203.1:n.-501_-500del | |
| NM_001354615.2:c.-404_-403del | NP_001341544.1:n.-404_-403del | |
| NM_001354616.2:c.-409_-408del | NP_001341545.1:n.-409_-408del | |
| NM_001354617.2:c.-501_-500del | NP_001341546.1:n.-501_-500del | |
| NM_001354618.2:c.-501_-500del | NP_001341547.1:n.-501_-500del | |
| NM_001354619.2:c.-501_-500del | NP_001341548.1:n.-501_-500del | |
| NM_001354620.2:c.-67_-66del | NP_001341549.1:n.-67_-66del | |
| NM_001354621.2:c.-594_-593del | NP_001341550.1:n.-594_-593del | |
| NM_001354622.2:c.-707_-706del | NP_001341551.1:n.-707_-706del | |
| NM_001354623.2:c.-707_-706del | NP_001341552.1:n.-707_-706del | |
| NM_001354624.2:c.-604_-603del | NP_001341553.1:n.-604_-603del | |
| NM_001354625.2:c.-507_-506del | NP_001341554.1:n.-507_-506del | |
| NM_001354626.2:c.-604_-603del | NP_001341555.1:n.-604_-603del | |
| NM_001354627.2:c.-604_-603del | NP_001341556.1:n.-604_-603del | |
| NM_001354628.2:c.223_224del | NP_001341557.1:p.Ile75CysfsTer3 | |
| NM_001354629.2:c.208-3431_208-3430del | NP_001341558.1:n.208-3431_208-3430del | |
| NM_001354630.2:c.223_224del | NP_001341559.1:p.Ile75CysfsTer3 |