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_000010.11:g.53823347_53823361delinsAGAAGGAAAAGACTT , CM000672.2:g.53823347_53823361delinsAGAAGGAAAAGACTT | GRCh38 |
| NC_000010.10:g.55583107_55583121delinsAGAAGGAAAAGACTT , CM000672.1:g.55583107_55583121delinsAGAAGGAAAAGACTT | GRCh37 |
| NC_000010.9:g.55253113_55253127delinsAGAAGGAAAAGACTT | NCBI36 |
| NG_009191.2:g.982931_982945delinsAAGTCTTTTCCTTCT | |
| NG_009191.3:g.1810822_1810836delinsAAGTCTTTTCCTTCT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000613657.6:c.4409+1775_4409+1789delinsAAGTCTTTTCCTTCT | ENSP00000482794.1:n.4409+1775_4409+1789de... | |
| ENST00000320301.11:c.4368-3_4379delinsAAGTCTTTTCCTTCT | ||
| ENST00000395445.6:c.4388+4032_4388+4046delinsAAGTCTTTTCCTTCT | ENSP00000378832.2:n.4388+4032_4388+4046de... | |
| ENST00000613657.5:c.4409+1775_4409+1789delinsAAGTCTTTTCCTTCT | ENSP00000482794.1:n.4409+1775_4409+1789de... | |
| ENST00000642496.1:c.3227-3131_3227-3117delinsAAGTCTTTTCCTTCT | ||
| ENST00000644397.2:c.4368-3131_4368-3117delinsAAGTCTTTTCCTTCT MANE Select | ENSP00000495195.1:n.4368-3131_4368-3117de... | |
| ENST00000320301.10:c.4368-3_4379delinsAAGTCTTTTCCTTCT | ||
| ENST00000361849.7:c.4374-3_4385delinsAAGTCTTTTCCTTCT | ||
| ENST00000373956.7:c.*2323-3_*2334delinsAAGTCTTTTCCTTCT | ||
| ENST00000373957.7:c.4389-3_4400delinsAAGTCTTTTCCTTCT | ||
| ENST00000373965.6:c.4373+1775_4373+1789delinsAAGTCTTTTCCTTCT | ENSP00000363076.3:n.4373+1775_4373+1789de... | |
| ENST00000395430.5:c.4359-3_4370delinsAAGTCTTTTCCTTCT | ||
| ENST00000395432.6:c.4248-3_4259delinsAAGTCTTTTCCTTCT | ||
| ENST00000395433.5:c.4299-3_4310delinsAAGTCTTTTCCTTCT | ||
| ENST00000395438.5:c.4371+4031_4371+4045delinsAAGTCTTTTCCTTCT | ENSP00000378826.2:n.4371+4031_4371+4045de... | |
| ENST00000395440.5:c.1306-13815_1306-13801delinsAAGTCTTTTCCTTCT | ENSP00000378827.1:n.1306-13815_1306-13801... | |
| ENST00000395442.5:c.1099-13815_1099-13801delinsAAGTCTTTTCCTTCT | ENSP00000378829.1:n.1099-13815_1099-13801... | |
| ENST00000395445.5:c.4388+4032_4388+4046delinsAAGTCTTTTCCTTCT | ENSP00000378832.2:n.4388+4032_4388+4046de... | |
| ENST00000395446.5:c.2092-13815_2092-13801delinsAAGTCTTTTCCTTCT | ENSP00000378833.1:n.2092-13815_2092-13801... | |
| ENST00000409834.5:c.3206+1775_3206+1789delinsAAGTCTTTTCCTTCT | ENSP00000386693.1:n.3206+1775_3206+1789de... | |
| ENST00000414367.5:c.*447+4032_*447+4046delinsAAGTCTTTTCCTTCT | ENSP00000412531.1:n.*447+4032_*447+4046de... | |
| ENST00000414778.5:c.4370+4032_4370+4046delinsAAGTCTTTTCCTTCT | ENSP00000410304.2:n.4370+4032_4370+4046de... | |
| ENST00000437009.5:c.4161-3_4172delinsAAGTCTTTTCCTTCT | ||
| ENST00000448885.5:c.*2329-3_*2340delinsAAGTCTTTTCCTTCT | ||
| ENST00000463095.2:n.1387-3_1398delinsAAGTCTTTTCCTTCT | ||
| ENST00000495484.5:c.462-5348_462-5334delinsAAGTCTTTTCCTTCT | ENSP00000480780.1:n.462-5348_462-5334deli... | |
| ENST00000612394.4:c.4406+4032_4406+4046delinsAAGTCTTTTCCTTCT | ENSP00000482921.1:n.4406+4032_4406+4046de... | |
| ENST00000613657.4:c.4409+1775_4409+1789delinsAAGTCTTTTCCTTCT | ENSP00000482794.1:n.4409+1775_4409+1789de... | |
| ENST00000614895.4:c.4385+4032_4385+4046delinsAAGTCTTTTCCTTCT | ENSP00000478512.1:n.4385+4032_4385+4046de... | |
| ENST00000616114.4:c.4367+4032_4367+4046delinsAAGTCTTTTCCTTCT | ENSP00000483745.1:n.4367+4032_4367+4046de... | |
| ENST00000617051.4:c.4392_4406delinsAAGTCTTTTCCTTCT | ENSP00000484703.1:p.Ser1464= | |
| ENST00000617271.4:c.4373+1775_4373+1789delinsAAGTCTTTTCCTTCT | ENSP00000478076.1:n.4373+1775_4373+1789de... | |
| ENST00000618301.4:c.593+4032_593+4046delinsAAGTCTTTTCCTTCT | ENSP00000482780.1:n.593+4032_593+4046deli... | |
| ENST00000621708.4:c.4388+1775_4388+1789delinsAAGTCTTTTCCTTCT | ENSP00000484454.1:n.4388+1775_4388+1789de... | |
| ENST00000622048.4:c.4164_4178delinsAAGTCTTTTCCTTCT | ENSP00000482329.1:p.Ser1388= | |
| NM_001142763.1:c.4389-3_4400delinsAAGTCTTTTCCTTCT | ||
| NM_001142764.1:c.4374-3_4385delinsAAGTCTTTTCCTTCT | ||
| NM_001142765.1:c.4161-3_4172delinsAAGTCTTTTCCTTCT | ||
| NM_001142766.1:c.4359-3_4370delinsAAGTCTTTTCCTTCT | ||
| NM_001142767.1:c.4248-3_4259delinsAAGTCTTTTCCTTCT | ||
| NM_001142768.1:c.4308-3_4319delinsAAGTCTTTTCCTTCT | ||
| NM_001142769.1:c.4409+1775_4409+1789delinsAAGTCTTTTCCTTCT | NP_001136241.1:n.4409+1775_4409+1789delin... | |
| NM_001142770.1:c.4373+1775_4373+1789delinsAAGTCTTTTCCTTCT | NP_001136242.1:n.4373+1775_4373+1789delin... | |
| NM_001142771.1:c.4388+1775_4388+1789delinsAAGTCTTTTCCTTCT | NP_001136243.1:n.4388+1775_4388+1789delin... | |
| NM_001142772.1:c.4373+1775_4373+1789delinsAAGTCTTTTCCTTCT | NP_001136244.1:n.4373+1775_4373+1789delin... | |
| NM_001142773.1:c.4299-3_4310delinsAAGTCTTTTCCTTCT | ||
| NM_033056.3:c.4368-3_4379delinsAAGTCTTTTCCTTCT | ||
| NM_001142769.2:c.4409+1775_4409+1789delinsAAGTCTTTTCCTTCT | NP_001136241.1:n.4409+1775_4409+1789delin... | |
| NM_001142770.2:c.4373+1775_4373+1789delinsAAGTCTTTTCCTTCT | NP_001136242.1:n.4373+1775_4373+1789delin... | |
| NM_001354404.1:c.4302-3_4313delinsAAGTCTTTTCCTTCT | ||
| NM_001354411.1:c.4388+4032_4388+4046delinsAAGTCTTTTCCTTCT | NP_001341340.1:n.4388+4032_4388+4046delin... | |
| NM_001354420.1:c.4367+4032_4367+4046delinsAAGTCTTTTCCTTCT | NP_001341349.1:n.4367+4032_4367+4046delin... | |
| NM_001354429.1:c.4367+4032_4367+4046delinsAAGTCTTTTCCTTCT | NP_001341358.1:n.4367+4032_4367+4046delin... | |
| XM_017016573.2:c.4388+1775_4388+1789delinsAAGTCTTTTCCTTCT | XP_016872062.1:n.4388+1775_4388+1789delin... | |
| XR_001747192.2:n.5381-3_5392delinsAAGTCTTTTCCTTCT | ||
| XR_001747193.2:n.5372-3_5383delinsAAGTCTTTTCCTTCT | ||
| NM_001142763.2:c.4389-3_4400delinsAAGTCTTTTCCTTCT | ||
| NM_001142764.2:c.4374-3_4385delinsAAGTCTTTTCCTTCT | ||
| NM_001142765.2:c.4161-3_4172delinsAAGTCTTTTCCTTCT | ||
| NM_001142766.2:c.4359-3_4370delinsAAGTCTTTTCCTTCT | ||
| NM_001142768.2:c.4308-3_4319delinsAAGTCTTTTCCTTCT | ||
| NM_001142769.3:c.4409+1775_4409+1789delinsAAGTCTTTTCCTTCT | NP_001136241.1:n.4409+1775_4409+1789delin... | |
| NM_001142770.3:c.4373+1775_4373+1789delinsAAGTCTTTTCCTTCT | NP_001136242.1:n.4373+1775_4373+1789delin... | |
| NM_001142771.2:c.4388+1775_4388+1789delinsAAGTCTTTTCCTTCT | NP_001136243.1:n.4388+1775_4388+1789delin... | |
| NM_001142772.2:c.4373+1775_4373+1789delinsAAGTCTTTTCCTTCT | NP_001136244.1:n.4373+1775_4373+1789delin... | |
| NM_001142773.2:c.4299-3_4310delinsAAGTCTTTTCCTTCT | ||
| NM_001354411.2:c.4388+4032_4388+4046delinsAAGTCTTTTCCTTCT | NP_001341340.1:n.4388+4032_4388+4046delin... | |
| NM_001354420.2:c.4367+4032_4367+4046delinsAAGTCTTTTCCTTCT | NP_001341349.1:n.4367+4032_4367+4046delin... | |
| NM_001354429.2:c.4367+4032_4367+4046delinsAAGTCTTTTCCTTCT | NP_001341358.1:n.4367+4032_4367+4046delin... | |
| NM_033056.4:c.4368-3_4379delinsAAGTCTTTTCCTTCT | ||
| NM_001142767.2:c.4248-3_4259delinsAAGTCTTTTCCTTCT | ||
| NM_001354404.2:c.4302-3_4313delinsAAGTCTTTTCCTTCT | ||
| NM_001384140.1:c.4368-3131_4368-3117delinsAAGTCTTTTCCTTCT MANE Select | NP_001371069.1:n.4368-3131_4368-3117delin... |