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:
1080698
ClinVar RCV Id:
RCV001396418
dbSNP Id:
rs764494096
ExAC:
10:55583121 T / TGAAA
gnomAD v2:
10-55583121-T-TGAAA
gnomAD v3:
10-53823361-T-TGAAA
gnomAD v4:
10-53823361-T-TGAAA
MyVariant Identifiers:
chr10:g.55583121_55583122insGAAA (hg19)
chr10:g.53823361_53823362insGAAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.53823366_53823369dup , CM000672.2:g.53823366_53823369dup | GRCh38 |
| NC_000010.10:g.55583126_55583129dup , CM000672.1:g.55583126_55583129dup | GRCh37 |
| NC_000010.9:g.55253132_55253135dup | NCBI36 |
| NG_009191.2:g.982927_982930dup | |
| NG_009191.3:g.1810818_1810821dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000613657.6:c.4409+1771_4409+1774dup | ENSP00000482794.1:n.4409+1771_4409+1774du... | |
| ENST00000320301.11:c.4368-7_4368-4dup MANE Plus Clinical | ENSP00000322604.6:n.4368-7_4368-4dup | |
| ENST00000395445.6:c.4388+4028_4388+4031dup | ENSP00000378832.2:n.4388+4028_4388+4031du... | |
| ENST00000613657.5:c.4409+1771_4409+1774dup | ENSP00000482794.1:n.4409+1771_4409+1774du... | |
| ENST00000642496.1:c.3227-3135_3227-3132dup | ||
| ENST00000644397.2:c.4368-3135_4368-3132dup MANE Select | ENSP00000495195.1:n.4368-3135_4368-3132du... | |
| ENST00000320301.10:c.4368-7_4368-4dup | ENSP00000322604.6:n.4368-7_4368-4dup | |
| ENST00000361849.7:c.4374-7_4374-4dup | ENSP00000354950.3:n.4374-7_4374-4dup | |
| ENST00000373956.7:c.*2323-7_*2323-4dup | ENSP00000363067.4:n.*2323-7_*2323-4dup | |
| ENST00000373957.7:c.4389-7_4389-4dup | ENSP00000363068.4:n.4389-7_4389-4dup | |
| ENST00000373965.6:c.4373+1771_4373+1774dup | ENSP00000363076.3:n.4373+1771_4373+1774du... | |
| ENST00000395430.5:c.4359-7_4359-4dup | ENSP00000378818.1:n.4359-7_4359-4dup | |
| ENST00000395432.6:c.4248-7_4248-4dup | ENSP00000378820.2:n.4248-7_4248-4dup | |
| ENST00000395433.5:c.4299-7_4299-4dup | ENSP00000378821.1:n.4299-7_4299-4dup | |
| ENST00000395438.5:c.4371+4027_4371+4030dup | ENSP00000378826.2:n.4371+4027_4371+4030du... | |
| ENST00000395440.5:c.1306-13819_1306-13816dup | ENSP00000378827.1:n.1306-13819_1306-13816... | |
| ENST00000395442.5:c.1099-13819_1099-13816dup | ENSP00000378829.1:n.1099-13819_1099-13816... | |
| ENST00000395445.5:c.4388+4028_4388+4031dup | ENSP00000378832.2:n.4388+4028_4388+4031du... | |
| ENST00000395446.5:c.2092-13819_2092-13816dup | ENSP00000378833.1:n.2092-13819_2092-13816... | |
| ENST00000409834.5:c.3206+1771_3206+1774dup | ENSP00000386693.1:n.3206+1771_3206+1774du... | |
| ENST00000414367.5:c.*447+4028_*447+4031dup | ENSP00000412531.1:n.*447+4028_*447+4031du... | |
| ENST00000414778.5:c.4370+4028_4370+4031dup | ENSP00000410304.2:n.4370+4028_4370+4031du... | |
| ENST00000437009.5:c.4161-7_4161-4dup | ENSP00000412628.2:n.4161-7_4161-4dup | |
| ENST00000448885.5:c.*2329-7_*2329-4dup | ENSP00000412320.1:n.*2329-7_*2329-4dup | |
| ENST00000463095.2:n.1387-7_1387-4dup | ||
| ENST00000495484.5:c.462-5352_462-5349dup | ENSP00000480780.1:n.462-5352_462-5349dup | |
| ENST00000612394.4:c.4406+4028_4406+4031dup | ENSP00000482921.1:n.4406+4028_4406+4031du... | |
| ENST00000613657.4:c.4409+1771_4409+1774dup | ENSP00000482794.1:n.4409+1771_4409+1774du... | |
| ENST00000614895.4:c.4385+4028_4385+4031dup | ENSP00000478512.1:n.4385+4028_4385+4031du... | |
| ENST00000616114.4:c.4367+4028_4367+4031dup | ENSP00000483745.1:n.4367+4028_4367+4031du... | |
| ENST00000617051.4:c.4388_4391dup | ||
| ENST00000617271.4:c.4373+1771_4373+1774dup | ENSP00000478076.1:n.4373+1771_4373+1774du... | |
| ENST00000618301.4:c.593+4028_593+4031dup | ENSP00000482780.1:n.593+4028_593+4031dup | |
| ENST00000621708.4:c.4388+1771_4388+1774dup | ENSP00000484454.1:n.4388+1771_4388+1774du... | |
| ENST00000622048.4:c.4160_4163dup | ||
| NM_001142763.1:c.4389-7_4389-4dup | NP_001136235.1:n.4389-7_4389-4dup | |
| NM_001142764.1:c.4374-7_4374-4dup | NP_001136236.1:n.4374-7_4374-4dup | |
| NM_001142765.1:c.4161-7_4161-4dup | NP_001136237.1:n.4161-7_4161-4dup | |
| NM_001142766.1:c.4359-7_4359-4dup | NP_001136238.1:n.4359-7_4359-4dup | |
| NM_001142767.1:c.4248-7_4248-4dup | NP_001136239.1:n.4248-7_4248-4dup | |
| NM_001142768.1:c.4308-7_4308-4dup | NP_001136240.1:n.4308-7_4308-4dup | |
| NM_001142769.1:c.4409+1771_4409+1774dup | NP_001136241.1:n.4409+1771_4409+1774dup | |
| NM_001142770.1:c.4373+1771_4373+1774dup | NP_001136242.1:n.4373+1771_4373+1774dup | |
| NM_001142771.1:c.4388+1771_4388+1774dup | NP_001136243.1:n.4388+1771_4388+1774dup | |
| NM_001142772.1:c.4373+1771_4373+1774dup | NP_001136244.1:n.4373+1771_4373+1774dup | |
| NM_001142773.1:c.4299-7_4299-4dup | NP_001136245.1:n.4299-7_4299-4dup | |
| NM_033056.3:c.4368-7_4368-4dup | NP_149045.3:n.4368-7_4368-4dup | |
| NM_001142769.2:c.4409+1771_4409+1774dup | NP_001136241.1:n.4409+1771_4409+1774dup | |
| NM_001142770.2:c.4373+1771_4373+1774dup | NP_001136242.1:n.4373+1771_4373+1774dup | |
| NM_001354404.1:c.4302-7_4302-4dup | NP_001341333.1:n.4302-7_4302-4dup | |
| NM_001354411.1:c.4388+4028_4388+4031dup | NP_001341340.1:n.4388+4028_4388+4031dup | |
| NM_001354420.1:c.4367+4028_4367+4031dup | NP_001341349.1:n.4367+4028_4367+4031dup | |
| NM_001354429.1:c.4367+4028_4367+4031dup | NP_001341358.1:n.4367+4028_4367+4031dup | |
| XM_017016573.2:c.4388+1771_4388+1774dup | XP_016872062.1:n.4388+1771_4388+1774dup | |
| XR_001747192.2:n.5381-7_5381-4dup | ||
| XR_001747193.2:n.5372-7_5372-4dup | ||
| NM_001142763.2:c.4389-7_4389-4dup | NP_001136235.1:n.4389-7_4389-4dup | |
| NM_001142764.2:c.4374-7_4374-4dup | NP_001136236.1:n.4374-7_4374-4dup | |
| NM_001142765.2:c.4161-7_4161-4dup | NP_001136237.1:n.4161-7_4161-4dup | |
| NM_001142766.2:c.4359-7_4359-4dup | NP_001136238.1:n.4359-7_4359-4dup | |
| NM_001142768.2:c.4308-7_4308-4dup | NP_001136240.1:n.4308-7_4308-4dup | |
| NM_001142769.3:c.4409+1771_4409+1774dup | NP_001136241.1:n.4409+1771_4409+1774dup | |
| NM_001142770.3:c.4373+1771_4373+1774dup | NP_001136242.1:n.4373+1771_4373+1774dup | |
| NM_001142771.2:c.4388+1771_4388+1774dup | NP_001136243.1:n.4388+1771_4388+1774dup | |
| NM_001142772.2:c.4373+1771_4373+1774dup | NP_001136244.1:n.4373+1771_4373+1774dup | |
| NM_001142773.2:c.4299-7_4299-4dup | NP_001136245.1:n.4299-7_4299-4dup | |
| NM_001354411.2:c.4388+4028_4388+4031dup | NP_001341340.1:n.4388+4028_4388+4031dup | |
| NM_001354420.2:c.4367+4028_4367+4031dup | NP_001341349.1:n.4367+4028_4367+4031dup | |
| NM_001354429.2:c.4367+4028_4367+4031dup | NP_001341358.1:n.4367+4028_4367+4031dup | |
| NM_033056.4:c.4368-7_4368-4dup MANE Plus Clinical | NP_149045.3:n.4368-7_4368-4dup | |
| NM_001142767.2:c.4248-7_4248-4dup | NP_001136239.1:n.4248-7_4248-4dup | |
| NM_001354404.2:c.4302-7_4302-4dup | NP_001341333.1:n.4302-7_4302-4dup | |
| NM_001384140.1:c.4368-3135_4368-3132dup MANE Select | NP_001371069.1:n.4368-3135_4368-3132dup |