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:
957912
ClinVar RCV Id:
RCV001230981
dbSNP Id:
rs866966373
gnomAD v3:
10-53823356-A-AGACTT
gnomAD v4:
10-53823356-A-AGACTT
MyVariant Identifiers:
chr10:g.55583116_55583117insGACTT (hg19)
chr10:g.53823356_53823357insGACTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.53823359_53823363dup , CM000672.2:g.53823359_53823363dup | GRCh38 |
| NC_000010.10:g.55583119_55583123dup , CM000672.1:g.55583119_55583123dup | GRCh37 |
| NC_000010.9:g.55253125_55253129dup | NCBI36 |
| NG_009191.2:g.982931_982935dup | |
| NG_009191.3:g.1810822_1810826dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000613657.6:c.4409+1775_4409+1779dup | ENSP00000482794.1:n.4409+1775_4409+1779du... | |
| ENST00000320301.11:c.4368-3_4369dup | ||
| ENST00000395445.6:c.4388+4032_4388+4036dup | ENSP00000378832.2:n.4388+4032_4388+4036du... | |
| ENST00000613657.5:c.4409+1775_4409+1779dup | ENSP00000482794.1:n.4409+1775_4409+1779du... | |
| ENST00000642496.1:c.3227-3131_3227-3127dup | ||
| ENST00000644397.2:c.4368-3131_4368-3127dup MANE Select | ENSP00000495195.1:n.4368-3131_4368-3127du... | |
| ENST00000320301.10:c.4368-3_4369dup | ||
| ENST00000361849.7:c.4374-3_4375dup | ||
| ENST00000373956.7:c.*2323-3_*2324dup | ||
| ENST00000373957.7:c.4389-3_4390dup | ||
| ENST00000373965.6:c.4373+1775_4373+1779dup | ENSP00000363076.3:n.4373+1775_4373+1779du... | |
| ENST00000395430.5:c.4359-3_4360dup | ||
| ENST00000395432.6:c.4248-3_4249dup | ||
| ENST00000395433.5:c.4299-3_4300dup | ||
| ENST00000395438.5:c.4371+4031_4371+4035dup | ENSP00000378826.2:n.4371+4031_4371+4035du... | |
| ENST00000395440.5:c.1306-13815_1306-13811dup | ENSP00000378827.1:n.1306-13815_1306-13811... | |
| ENST00000395442.5:c.1099-13815_1099-13811dup | ENSP00000378829.1:n.1099-13815_1099-13811... | |
| ENST00000395445.5:c.4388+4032_4388+4036dup | ENSP00000378832.2:n.4388+4032_4388+4036du... | |
| ENST00000395446.5:c.2092-13815_2092-13811dup | ENSP00000378833.1:n.2092-13815_2092-13811... | |
| ENST00000409834.5:c.3206+1775_3206+1779dup | ENSP00000386693.1:n.3206+1775_3206+1779du... | |
| ENST00000414367.5:c.*447+4032_*447+4036dup | ENSP00000412531.1:n.*447+4032_*447+4036du... | |
| ENST00000414778.5:c.4370+4032_4370+4036dup | ENSP00000410304.2:n.4370+4032_4370+4036du... | |
| ENST00000437009.5:c.4161-3_4162dup | ||
| ENST00000448885.5:c.*2329-3_*2330dup | ||
| ENST00000463095.2:n.1387-3_1388dup | ||
| ENST00000495484.5:c.462-5348_462-5344dup | ENSP00000480780.1:n.462-5348_462-5344dup | |
| ENST00000612394.4:c.4406+4032_4406+4036dup | ENSP00000482921.1:n.4406+4032_4406+4036du... | |
| ENST00000613657.4:c.4409+1775_4409+1779dup | ENSP00000482794.1:n.4409+1775_4409+1779du... | |
| ENST00000614895.4:c.4385+4032_4385+4036dup | ENSP00000478512.1:n.4385+4032_4385+4036du... | |
| ENST00000616114.4:c.4367+4032_4367+4036dup | ENSP00000483745.1:n.4367+4032_4367+4036du... | |
| ENST00000617051.4:c.4392_4396dup | ENSP00000484703.1:p.Leu1466GlnfsTer28 | |
| ENST00000617271.4:c.4373+1775_4373+1779dup | ENSP00000478076.1:n.4373+1775_4373+1779du... | |
| ENST00000618301.4:c.593+4032_593+4036dup | ENSP00000482780.1:n.593+4032_593+4036dup | |
| ENST00000621708.4:c.4388+1775_4388+1779dup | ENSP00000484454.1:n.4388+1775_4388+1779du... | |
| ENST00000622048.4:c.4164_4168dup | ENSP00000482329.1:p.Leu1390GlnfsTer28 | |
| NM_001142763.1:c.4389-3_4390dup | ||
| NM_001142764.1:c.4374-3_4375dup | ||
| NM_001142765.1:c.4161-3_4162dup | ||
| NM_001142766.1:c.4359-3_4360dup | ||
| NM_001142767.1:c.4248-3_4249dup | ||
| NM_001142768.1:c.4308-3_4309dup | ||
| NM_001142769.1:c.4409+1775_4409+1779dup | NP_001136241.1:n.4409+1775_4409+1779dup | |
| NM_001142770.1:c.4373+1775_4373+1779dup | NP_001136242.1:n.4373+1775_4373+1779dup | |
| NM_001142771.1:c.4388+1775_4388+1779dup | NP_001136243.1:n.4388+1775_4388+1779dup | |
| NM_001142772.1:c.4373+1775_4373+1779dup | NP_001136244.1:n.4373+1775_4373+1779dup | |
| NM_001142773.1:c.4299-3_4300dup | ||
| NM_033056.3:c.4368-3_4369dup | ||
| NM_001142769.2:c.4409+1775_4409+1779dup | NP_001136241.1:n.4409+1775_4409+1779dup | |
| NM_001142770.2:c.4373+1775_4373+1779dup | NP_001136242.1:n.4373+1775_4373+1779dup | |
| NM_001354404.1:c.4302-3_4303dup | ||
| NM_001354411.1:c.4388+4032_4388+4036dup | NP_001341340.1:n.4388+4032_4388+4036dup | |
| NM_001354420.1:c.4367+4032_4367+4036dup | NP_001341349.1:n.4367+4032_4367+4036dup | |
| NM_001354429.1:c.4367+4032_4367+4036dup | NP_001341358.1:n.4367+4032_4367+4036dup | |
| XM_017016573.2:c.4388+1775_4388+1779dup | XP_016872062.1:n.4388+1775_4388+1779dup | |
| XR_001747192.2:n.5381-3_5382dup | ||
| XR_001747193.2:n.5372-3_5373dup | ||
| NM_001142763.2:c.4389-3_4390dup | ||
| NM_001142764.2:c.4374-3_4375dup | ||
| NM_001142765.2:c.4161-3_4162dup | ||
| NM_001142766.2:c.4359-3_4360dup | ||
| NM_001142768.2:c.4308-3_4309dup | ||
| NM_001142769.3:c.4409+1775_4409+1779dup | NP_001136241.1:n.4409+1775_4409+1779dup | |
| NM_001142770.3:c.4373+1775_4373+1779dup | NP_001136242.1:n.4373+1775_4373+1779dup | |
| NM_001142771.2:c.4388+1775_4388+1779dup | NP_001136243.1:n.4388+1775_4388+1779dup | |
| NM_001142772.2:c.4373+1775_4373+1779dup | NP_001136244.1:n.4373+1775_4373+1779dup | |
| NM_001142773.2:c.4299-3_4300dup | ||
| NM_001354411.2:c.4388+4032_4388+4036dup | NP_001341340.1:n.4388+4032_4388+4036dup | |
| NM_001354420.2:c.4367+4032_4367+4036dup | NP_001341349.1:n.4367+4032_4367+4036dup | |
| NM_001354429.2:c.4367+4032_4367+4036dup | NP_001341358.1:n.4367+4032_4367+4036dup | |
| NM_033056.4:c.4368-3_4369dup | ||
| NM_001142767.2:c.4248-3_4249dup | ||
| NM_001354404.2:c.4302-3_4303dup | ||
| NM_001384140.1:c.4368-3131_4368-3127dup MANE Select | NP_001371069.1:n.4368-3131_4368-3127dup |