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:
227008
dbSNP Id:
rs530804327
ExAC:
10:55583127 A / AAAAG
gnomAD v2:
10-55583127-A-AAAAG
gnomAD v3:
10-53823367-A-AAAAG
gnomAD v4:
10-53823367-A-AAAAG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.53823370_53823373dup , CM000672.2:g.53823370_53823373dup | GRCh38 |
| NC_000010.10:g.55583130_55583133dup , CM000672.1:g.55583130_55583133dup | GRCh37 |
| NC_000010.9:g.55253136_55253139dup | NCBI36 |
| NG_009191.2:g.982921_982924dup | |
| NG_009191.3:g.1810812_1810815dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000613657.6:c.4409+1765_4409+1768dup | ENSP00000482794.1:n.4409+1765_4409+1768du... | |
| ENST00000320301.11:c.4368-13_4368-10dup MANE Plus Clinical | ENSP00000322604.6:n.4368-13_4368-10dup | |
| ENST00000395445.6:c.4388+4022_4388+4025dup | ENSP00000378832.2:n.4388+4022_4388+4025du... | |
| ENST00000613657.5:c.4409+1765_4409+1768dup | ENSP00000482794.1:n.4409+1765_4409+1768du... | |
| ENST00000642496.1:c.3227-3141_3227-3138dup | ||
| ENST00000644397.2:c.4368-3141_4368-3138dup MANE Select | ENSP00000495195.1:n.4368-3141_4368-3138du... | |
| ENST00000320301.10:c.4368-13_4368-10dup | ENSP00000322604.6:n.4368-13_4368-10dup | |
| ENST00000361849.7:c.4374-13_4374-10dup | ENSP00000354950.3:n.4374-13_4374-10dup | |
| ENST00000373956.7:c.*2323-13_*2323-10dup | ENSP00000363067.4:n.*2323-13_*2323-10dup | |
| ENST00000373957.7:c.4389-13_4389-10dup | ENSP00000363068.4:n.4389-13_4389-10dup | |
| ENST00000373965.6:c.4373+1765_4373+1768dup | ENSP00000363076.3:n.4373+1765_4373+1768du... | |
| ENST00000395430.5:c.4359-13_4359-10dup | ENSP00000378818.1:n.4359-13_4359-10dup | |
| ENST00000395432.6:c.4248-13_4248-10dup | ENSP00000378820.2:n.4248-13_4248-10dup | |
| ENST00000395433.5:c.4299-13_4299-10dup | ENSP00000378821.1:n.4299-13_4299-10dup | |
| ENST00000395438.5:c.4371+4021_4371+4024dup | ENSP00000378826.2:n.4371+4021_4371+4024du... | |
| ENST00000395440.5:c.1306-13825_1306-13822dup | ENSP00000378827.1:n.1306-13825_1306-13822... | |
| ENST00000395442.5:c.1099-13825_1099-13822dup | ENSP00000378829.1:n.1099-13825_1099-13822... | |
| ENST00000395445.5:c.4388+4022_4388+4025dup | ENSP00000378832.2:n.4388+4022_4388+4025du... | |
| ENST00000395446.5:c.2092-13825_2092-13822dup | ENSP00000378833.1:n.2092-13825_2092-13822... | |
| ENST00000409834.5:c.3206+1765_3206+1768dup | ENSP00000386693.1:n.3206+1765_3206+1768du... | |
| ENST00000414367.5:c.*447+4022_*447+4025dup | ENSP00000412531.1:n.*447+4022_*447+4025du... | |
| ENST00000414778.5:c.4370+4022_4370+4025dup | ENSP00000410304.2:n.4370+4022_4370+4025du... | |
| ENST00000437009.5:c.4161-13_4161-10dup | ENSP00000412628.2:n.4161-13_4161-10dup | |
| ENST00000448885.5:c.*2329-13_*2329-10dup | ENSP00000412320.1:n.*2329-13_*2329-10dup | |
| ENST00000463095.2:n.1387-13_1387-10dup | ||
| ENST00000495484.5:c.462-5358_462-5355dup | ENSP00000480780.1:n.462-5358_462-5355dup | |
| ENST00000612394.4:c.4406+4022_4406+4025dup | ENSP00000482921.1:n.4406+4022_4406+4025du... | |
| ENST00000613657.4:c.4409+1765_4409+1768dup | ENSP00000482794.1:n.4409+1765_4409+1768du... | |
| ENST00000614895.4:c.4385+4022_4385+4025dup | ENSP00000478512.1:n.4385+4022_4385+4025du... | |
| ENST00000616114.4:c.4367+4022_4367+4025dup | ENSP00000483745.1:n.4367+4022_4367+4025du... | |
| ENST00000617051.4:c.4386-4_4386-1dup | ENSP00000484703.1:n.4386-4_4386-1dup | |
| ENST00000617271.4:c.4373+1765_4373+1768dup | ENSP00000478076.1:n.4373+1765_4373+1768du... | |
| ENST00000618301.4:c.593+4022_593+4025dup | ENSP00000482780.1:n.593+4022_593+4025dup | |
| ENST00000621708.4:c.4388+1765_4388+1768dup | ENSP00000484454.1:n.4388+1765_4388+1768du... | |
| ENST00000622048.4:c.4158-4_4158-1dup | ENSP00000482329.1:n.4158-4_4158-1dup | |
| NM_001142763.1:c.4389-13_4389-10dup | NP_001136235.1:n.4389-13_4389-10dup | |
| NM_001142764.1:c.4374-13_4374-10dup | NP_001136236.1:n.4374-13_4374-10dup | |
| NM_001142765.1:c.4161-13_4161-10dup | NP_001136237.1:n.4161-13_4161-10dup | |
| NM_001142766.1:c.4359-13_4359-10dup | NP_001136238.1:n.4359-13_4359-10dup | |
| NM_001142767.1:c.4248-13_4248-10dup | NP_001136239.1:n.4248-13_4248-10dup | |
| NM_001142768.1:c.4308-13_4308-10dup | NP_001136240.1:n.4308-13_4308-10dup | |
| NM_001142769.1:c.4409+1765_4409+1768dup | NP_001136241.1:n.4409+1765_4409+1768dup | |
| NM_001142770.1:c.4373+1765_4373+1768dup | NP_001136242.1:n.4373+1765_4373+1768dup | |
| NM_001142771.1:c.4388+1765_4388+1768dup | NP_001136243.1:n.4388+1765_4388+1768dup | |
| NM_001142772.1:c.4373+1765_4373+1768dup | NP_001136244.1:n.4373+1765_4373+1768dup | |
| NM_001142773.1:c.4299-13_4299-10dup | NP_001136245.1:n.4299-13_4299-10dup | |
| NM_033056.3:c.4368-13_4368-10dup | NP_149045.3:n.4368-13_4368-10dup | |
| NM_001142769.2:c.4409+1765_4409+1768dup | NP_001136241.1:n.4409+1765_4409+1768dup | |
| NM_001142770.2:c.4373+1765_4373+1768dup | NP_001136242.1:n.4373+1765_4373+1768dup | |
| NM_001354404.1:c.4302-13_4302-10dup | NP_001341333.1:n.4302-13_4302-10dup | |
| NM_001354411.1:c.4388+4022_4388+4025dup | NP_001341340.1:n.4388+4022_4388+4025dup | |
| NM_001354420.1:c.4367+4022_4367+4025dup | NP_001341349.1:n.4367+4022_4367+4025dup | |
| NM_001354429.1:c.4367+4022_4367+4025dup | NP_001341358.1:n.4367+4022_4367+4025dup | |
| XM_017016573.2:c.4388+1765_4388+1768dup | XP_016872062.1:n.4388+1765_4388+1768dup | |
| XR_001747192.2:n.5381-13_5381-10dup | ||
| XR_001747193.2:n.5372-13_5372-10dup | ||
| NM_001142763.2:c.4389-13_4389-10dup | NP_001136235.1:n.4389-13_4389-10dup | |
| NM_001142764.2:c.4374-13_4374-10dup | NP_001136236.1:n.4374-13_4374-10dup | |
| NM_001142765.2:c.4161-13_4161-10dup | NP_001136237.1:n.4161-13_4161-10dup | |
| NM_001142766.2:c.4359-13_4359-10dup | NP_001136238.1:n.4359-13_4359-10dup | |
| NM_001142768.2:c.4308-13_4308-10dup | NP_001136240.1:n.4308-13_4308-10dup | |
| NM_001142769.3:c.4409+1765_4409+1768dup | NP_001136241.1:n.4409+1765_4409+1768dup | |
| NM_001142770.3:c.4373+1765_4373+1768dup | NP_001136242.1:n.4373+1765_4373+1768dup | |
| NM_001142771.2:c.4388+1765_4388+1768dup | NP_001136243.1:n.4388+1765_4388+1768dup | |
| NM_001142772.2:c.4373+1765_4373+1768dup | NP_001136244.1:n.4373+1765_4373+1768dup | |
| NM_001142773.2:c.4299-13_4299-10dup | NP_001136245.1:n.4299-13_4299-10dup | |
| NM_001354411.2:c.4388+4022_4388+4025dup | NP_001341340.1:n.4388+4022_4388+4025dup | |
| NM_001354420.2:c.4367+4022_4367+4025dup | NP_001341349.1:n.4367+4022_4367+4025dup | |
| NM_001354429.2:c.4367+4022_4367+4025dup | NP_001341358.1:n.4367+4022_4367+4025dup | |
| NM_033056.4:c.4368-13_4368-10dup MANE Plus Clinical | NP_149045.3:n.4368-13_4368-10dup | |
| NM_001142767.2:c.4248-13_4248-10dup | NP_001136239.1:n.4248-13_4248-10dup | |
| NM_001354404.2:c.4302-13_4302-10dup | NP_001341333.1:n.4302-13_4302-10dup | |
| NM_001384140.1:c.4368-3141_4368-3138dup MANE Select | NP_001371069.1:n.4368-3141_4368-3138dup |