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.
Linked Data
ClinVar Variation Id:
2747556
ClinVar RCV Id:
RCV003570518
dbSNP Id:
rs747722279
gnomAD v2:
10-55581788-A-ACATGTTAGCTACTGATTTTTCAAGT
gnomAD v3:
10-53822028-A-ACATGTTAGCTACTGATTTTTCAAGT
gnomAD v4:
10-53822028-A-ACATGTTAGCTACTGATTTTTCAAGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.53822029_53822053dup , CM000672.2:g.53822029_53822053dup | GRCh38 |
| NC_000010.10:g.55581789_55581813dup , CM000672.1:g.55581789_55581813dup | GRCh37 |
| NC_000010.9:g.55251795_55251819dup | NCBI36 |
| NG_009191.2:g.984239_984263dup | |
| NG_009191.3:g.1812130_1812154dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000613657.6:c.4409+3083_4409+3107dup | ENSP00000482794.1:n.4409+3083_4409+3107du... | |
| ENST00000320301.11:c.5673_5697dup MANE Plus Clinical | ENSP00000322604.6:p.Tyr1900ThrfsTer2 | |
| ENST00000395445.6:c.4388+5340_4388+5364dup | ENSP00000378832.2:n.4388+5340_4388+5364du... | |
| ENST00000613657.5:c.4409+3083_4409+3107dup | ENSP00000482794.1:n.4409+3083_4409+3107du... | |
| ENST00000642496.1:c.3227-1823_3227-1799dup | ||
| ENST00000644397.2:c.4368-1823_4368-1799dup MANE Select | ENSP00000495195.1:n.4368-1823_4368-1799du... | |
| ENST00000320301.10:c.5673_5697dup | ENSP00000322604.6:p.Tyr1900ThrfsTer2 | |
| ENST00000361849.7:c.5679_5703dup | ENSP00000354950.3:p.Tyr1902ThrfsTer2 | |
| ENST00000373956.7:c.*3628_*3652dup | ENSP00000363067.4:n.*3628_*3652dup | |
| ENST00000373957.7:c.5694_5718dup | ENSP00000363068.4:p.Tyr1907ThrfsTer2 | |
| ENST00000373965.6:c.4373+3083_4373+3107dup | ENSP00000363076.3:n.4373+3083_4373+3107du... | |
| ENST00000395430.5:c.5664_5688dup | ENSP00000378818.1:p.Tyr1897ThrfsTer2 | |
| ENST00000395432.6:c.5553_5577dup | ENSP00000378820.2:p.Tyr1860ThrfsTer2 | |
| ENST00000395433.5:c.5604_5628dup | ENSP00000378821.1:p.Tyr1877ThrfsTer2 | |
| ENST00000395438.5:c.4371+5339_4371+5363dup | ENSP00000378826.2:n.4371+5339_4371+5363du... | |
| ENST00000395440.5:c.1306-12507_1306-12483dup | ENSP00000378827.1:n.1306-12507_1306-12483... | |
| ENST00000395442.5:c.1099-12507_1099-12483dup | ENSP00000378829.1:n.1099-12507_1099-12483... | |
| ENST00000395445.5:c.4388+5340_4388+5364dup | ENSP00000378832.2:n.4388+5340_4388+5364du... | |
| ENST00000395446.5:c.2092-12507_2092-12483dup | ENSP00000378833.1:n.2092-12507_2092-12483... | |
| ENST00000409834.5:c.3206+3083_3206+3107dup | ENSP00000386693.1:n.3206+3083_3206+3107du... | |
| ENST00000414367.5:c.*447+5340_*447+5364dup | ENSP00000412531.1:n.*447+5340_*447+5364du... | |
| ENST00000414778.5:c.4370+5340_4370+5364dup | ENSP00000410304.2:n.4370+5340_4370+5364du... | |
| ENST00000437009.5:c.5466_5490dup | ENSP00000412628.2:p.Tyr1831ThrfsTer2 | |
| ENST00000448885.5:c.*3634_*3658dup | ENSP00000412320.1:n.*3634_*3658dup | |
| ENST00000463095.2:n.2692_2716dup | ||
| ENST00000495484.5:c.462-4040_462-4016dup | ENSP00000480780.1:n.462-4040_462-4016dup | |
| ENST00000612394.4:c.4406+5340_4406+5364dup | ENSP00000482921.1:n.4406+5340_4406+5364du... | |
| ENST00000613657.4:c.4409+3083_4409+3107dup | ENSP00000482794.1:n.4409+3083_4409+3107du... | |
| ENST00000614895.4:c.4385+5340_4385+5364dup | ENSP00000478512.1:n.4385+5340_4385+5364du... | |
| ENST00000616114.4:c.4367+5340_4367+5364dup | ENSP00000483745.1:n.4367+5340_4367+5364du... | |
| ENST00000617051.4:c.5700_5724dup | ENSP00000484703.1:p.Tyr1909ThrfsTer2 | |
| ENST00000617271.4:c.4373+3083_4373+3107dup | ENSP00000478076.1:n.4373+3083_4373+3107du... | |
| ENST00000618301.4:c.594-4040_594-4016dup | ENSP00000482780.1:n.594-4040_594-4016dup | |
| ENST00000621708.4:c.4388+3083_4388+3107dup | ENSP00000484454.1:n.4388+3083_4388+3107du... | |
| ENST00000622048.4:c.5472_5496dup | ENSP00000482329.1:p.Tyr1833ThrfsTer2 | |
| NM_001142763.1:c.5694_5718dup | NP_001136235.1:p.Tyr1907ThrfsTer2 | |
| NM_001142764.1:c.5679_5703dup | NP_001136236.1:p.Tyr1902ThrfsTer2 | |
| NM_001142765.1:c.5466_5490dup | NP_001136237.1:p.Tyr1831ThrfsTer2 | |
| NM_001142766.1:c.5664_5688dup | NP_001136238.1:p.Tyr1897ThrfsTer2 | |
| NM_001142767.1:c.5553_5577dup | NP_001136239.1:p.Tyr1860ThrfsTer2 | |
| NM_001142768.1:c.5613_5637dup | NP_001136240.1:p.Tyr1880ThrfsTer2 | |
| NM_001142769.1:c.4409+3083_4409+3107dup | NP_001136241.1:n.4409+3083_4409+3107dup | |
| NM_001142770.1:c.4373+3083_4373+3107dup | NP_001136242.1:n.4373+3083_4373+3107dup | |
| NM_001142771.1:c.4388+3083_4388+3107dup | NP_001136243.1:n.4388+3083_4388+3107dup | |
| NM_001142772.1:c.4373+3083_4373+3107dup | NP_001136244.1:n.4373+3083_4373+3107dup | |
| NM_001142773.1:c.5604_5628dup | NP_001136245.1:p.Tyr1877ThrfsTer2 | |
| NM_033056.3:c.5673_5697dup | NP_149045.3:p.Tyr1900ThrfsTer2 | |
| NM_001142769.2:c.4409+3083_4409+3107dup | NP_001136241.1:n.4409+3083_4409+3107dup | |
| NM_001142770.2:c.4373+3083_4373+3107dup | NP_001136242.1:n.4373+3083_4373+3107dup | |
| NM_001354404.1:c.5607_5631dup | NP_001341333.1:p.Tyr1878ThrfsTer2 | |
| NM_001354411.1:c.4388+5340_4388+5364dup | NP_001341340.1:n.4388+5340_4388+5364dup | |
| NM_001354420.1:c.4367+5340_4367+5364dup | NP_001341349.1:n.4367+5340_4367+5364dup | |
| NM_001354429.1:c.4368-4040_4368-4016dup | NP_001341358.1:n.4368-4040_4368-4016dup | |
| XM_017016573.2:c.4388+3083_4388+3107dup | XP_016872062.1:n.4388+3083_4388+3107dup | |
| XR_001747192.2:n.6686_6710dup | ||
| XR_001747193.2:n.6677_6701dup | ||
| NM_001142763.2:c.5694_5718dup | NP_001136235.1:p.Tyr1907ThrfsTer2 | |
| NM_001142764.2:c.5679_5703dup | NP_001136236.1:p.Tyr1902ThrfsTer2 | |
| NM_001142765.2:c.5466_5490dup | NP_001136237.1:p.Tyr1831ThrfsTer2 | |
| NM_001142766.2:c.5664_5688dup | NP_001136238.1:p.Tyr1897ThrfsTer2 | |
| NM_001142768.2:c.5613_5637dup | NP_001136240.1:p.Tyr1880ThrfsTer2 | |
| NM_001142769.3:c.4409+3083_4409+3107dup | NP_001136241.1:n.4409+3083_4409+3107dup | |
| NM_001142770.3:c.4373+3083_4373+3107dup | NP_001136242.1:n.4373+3083_4373+3107dup | |
| NM_001142771.2:c.4388+3083_4388+3107dup | NP_001136243.1:n.4388+3083_4388+3107dup | |
| NM_001142772.2:c.4373+3083_4373+3107dup | NP_001136244.1:n.4373+3083_4373+3107dup | |
| NM_001142773.2:c.5604_5628dup | NP_001136245.1:p.Tyr1877ThrfsTer2 | |
| NM_001354411.2:c.4388+5340_4388+5364dup | NP_001341340.1:n.4388+5340_4388+5364dup | |
| NM_001354420.2:c.4367+5340_4367+5364dup | NP_001341349.1:n.4367+5340_4367+5364dup | |
| NM_001354429.2:c.4368-4040_4368-4016dup | NP_001341358.1:n.4368-4040_4368-4016dup | |
| NM_033056.4:c.5673_5697dup MANE Plus Clinical | NP_149045.3:p.Tyr1900ThrfsTer2 | |
| NM_001142767.2:c.5553_5577dup | NP_001136239.1:p.Tyr1860ThrfsTer2 | |
| NM_001354404.2:c.5607_5631dup | NP_001341333.1:p.Tyr1878ThrfsTer2 | |
| NM_001384140.1:c.4368-1823_4368-1799dup MANE Select | NP_001371069.1:n.4368-1823_4368-1799dup |