UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
46493
ClinVar RCV Id:
RCV000039752
RCV000315573
RCV000363120
RCV000910500
RCV001449922
RCV001810409
RCV004541130
dbSNP Id:
rs397517465
ExAC:
10:55582193 GAGGAGC / G
gnomAD v2:
10-55582193-GAGGAGC-G
gnomAD v3:
10-53822433-GAGGAGC-G
gnomAD v4:
10-53822433-GAGGAGC-G
MyVariant Identifiers:
chr10:g.55582200_55582205del (hg19)
chr10:g.55582194_55582199del (hg19)
chr10:g.53822435_53822440del (hg38)
chr10:g.53822434_53822439del (hg38)
PubMed:
PMID:25307757
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.53822445_53822450del , CM000672.2:g.53822445_53822450del | GRCh38 |
| NC_000010.10:g.55582205_55582210del , CM000672.1:g.55582205_55582210del | GRCh37 |
| NC_000010.9:g.55252211_55252216del | NCBI36 |
| NG_009191.2:g.983853_983858del | |
| NG_009191.3:g.1811744_1811749del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613657.6:c.4409+2697_4409+2702del | ENSP00000482794.1:n.4409+2697_4409+2702del | |
| ENST00000320301.11:c.5287_5292del MANE Plus Clinical | ENSP00000322604.6:p.Ala1763_Pro1764del | |
| ENST00000395445.6:c.4388+4954_4388+4959del | ENSP00000378832.2:n.4388+4954_4388+4959del | |
| ENST00000613657.5:c.4409+2697_4409+2702del | ENSP00000482794.1:n.4409+2697_4409+2702del | |
| ENST00000642496.1:c.3227-2209_3227-2204del | ||
| ENST00000644397.2:c.4368-2209_4368-2204del MANE Select | ENSP00000495195.1:n.4368-2209_4368-2204del | |
| ENST00000320301.10:c.5287_5292del | ENSP00000322604.6:p.Ala1763_Pro1764del | |
| ENST00000361849.7:c.5293_5298del | ENSP00000354950.3:p.Ala1765_Pro1766del | |
| ENST00000373956.7:c.*3242_*3247del | ENSP00000363067.4:n.*3242_*3247del | |
| ENST00000373957.7:c.5308_5313del | ENSP00000363068.4:p.Ala1770_Pro1771del | |
| ENST00000373965.6:c.4373+2697_4373+2702del | ENSP00000363076.3:n.4373+2697_4373+2702del | |
| ENST00000395430.5:c.5278_5283del | ENSP00000378818.1:p.Ala1760_Pro1761del | |
| ENST00000395432.6:c.5167_5172del | ENSP00000378820.2:p.Ala1723_Pro1724del | |
| ENST00000395433.5:c.5218_5223del | ENSP00000378821.1:p.Ala1740_Pro1741del | |
| ENST00000395438.5:c.4371+4953_4371+4958del | ENSP00000378826.2:n.4371+4953_4371+4958del | |
| ENST00000395440.5:c.1306-12893_1306-12888del | ENSP00000378827.1:n.1306-12893_1306-12888del | |
| ENST00000395442.5:c.1099-12893_1099-12888del | ENSP00000378829.1:n.1099-12893_1099-12888del | |
| ENST00000395445.5:c.4388+4954_4388+4959del | ENSP00000378832.2:n.4388+4954_4388+4959del | |
| ENST00000395446.5:c.2092-12893_2092-12888del | ENSP00000378833.1:n.2092-12893_2092-12888del | |
| ENST00000409834.5:c.3206+2697_3206+2702del | ENSP00000386693.1:n.3206+2697_3206+2702del | |
| ENST00000414367.5:c.*447+4954_*447+4959del | ENSP00000412531.1:n.*447+4954_*447+4959del | |
| ENST00000414778.5:c.4370+4954_4370+4959del | ENSP00000410304.2:n.4370+4954_4370+4959del | |
| ENST00000437009.5:c.5080_5085del | ENSP00000412628.2:p.Ala1694_Pro1695del | |
| ENST00000448885.5:c.*3248_*3253del | ENSP00000412320.1:n.*3248_*3253del | |
| ENST00000463095.2:n.2306_2311del | ||
| ENST00000495484.5:c.462-4426_462-4421del | ENSP00000480780.1:n.462-4426_462-4421del | |
| ENST00000612394.4:c.4406+4954_4406+4959del | ENSP00000482921.1:n.4406+4954_4406+4959del | |
| ENST00000613657.4:c.4409+2697_4409+2702del | ENSP00000482794.1:n.4409+2697_4409+2702del | |
| ENST00000614895.4:c.4385+4954_4385+4959del | ENSP00000478512.1:n.4385+4954_4385+4959del | |
| ENST00000616114.4:c.4367+4954_4367+4959del | ENSP00000483745.1:n.4367+4954_4367+4959del | |
| ENST00000617051.4:c.5314_5319del | ENSP00000484703.1:p.Ala1772_Pro1773del | |
| ENST00000617271.4:c.4373+2697_4373+2702del | ENSP00000478076.1:n.4373+2697_4373+2702del | |
| ENST00000618301.4:c.594-4426_594-4421del | ENSP00000482780.1:n.594-4426_594-4421del | |
| ENST00000621708.4:c.4388+2697_4388+2702del | ENSP00000484454.1:n.4388+2697_4388+2702del | |
| ENST00000622048.4:c.5086_5091del | ENSP00000482329.1:p.Ala1696_Pro1697del | |
| NM_001142763.1:c.5308_5313del | NP_001136235.1:p.Ala1770_Pro1771del | |
| NM_001142764.1:c.5293_5298del | NP_001136236.1:p.Ala1765_Pro1766del | |
| NM_001142765.1:c.5080_5085del | NP_001136237.1:p.Ala1694_Pro1695del | |
| NM_001142766.1:c.5278_5283del | NP_001136238.1:p.Ala1760_Pro1761del | |
| NM_001142767.1:c.5167_5172del | NP_001136239.1:p.Ala1723_Pro1724del | |
| NM_001142768.1:c.5227_5232del | NP_001136240.1:p.Ala1743_Pro1744del | |
| NM_001142769.1:c.4409+2697_4409+2702del | NP_001136241.1:n.4409+2697_4409+2702del | |
| NM_001142770.1:c.4373+2697_4373+2702del | NP_001136242.1:n.4373+2697_4373+2702del | |
| NM_001142771.1:c.4388+2697_4388+2702del | NP_001136243.1:n.4388+2697_4388+2702del | |
| NM_001142772.1:c.4373+2697_4373+2702del | NP_001136244.1:n.4373+2697_4373+2702del | |
| NM_001142773.1:c.5218_5223del | NP_001136245.1:p.Ala1740_Pro1741del | |
| NM_033056.3:c.5287_5292del | NP_149045.3:p.Ala1763_Pro1764del | |
| NM_001142769.2:c.4409+2697_4409+2702del | NP_001136241.1:n.4409+2697_4409+2702del | |
| NM_001142770.2:c.4373+2697_4373+2702del | NP_001136242.1:n.4373+2697_4373+2702del | |
| NM_001354404.1:c.5221_5226del | NP_001341333.1:p.Ala1741_Pro1742del | |
| NM_001354411.1:c.4388+4954_4388+4959del | NP_001341340.1:n.4388+4954_4388+4959del | |
| NM_001354420.1:c.4367+4954_4367+4959del | NP_001341349.1:n.4367+4954_4367+4959del | |
| NM_001354429.1:c.4368-4426_4368-4421del | NP_001341358.1:n.4368-4426_4368-4421del | |
| XM_017016573.2:c.4388+2697_4388+2702del | XP_016872062.1:n.4388+2697_4388+2702del | |
| XR_001747192.2:n.6300_6305del | ||
| XR_001747193.2:n.6291_6296del | ||
| NM_001142763.2:c.5308_5313del | NP_001136235.1:p.Ala1770_Pro1771del | |
| NM_001142764.2:c.5293_5298del | NP_001136236.1:p.Ala1765_Pro1766del | |
| NM_001142765.2:c.5080_5085del | NP_001136237.1:p.Ala1694_Pro1695del | |
| NM_001142766.2:c.5278_5283del | NP_001136238.1:p.Ala1760_Pro1761del | |
| NM_001142768.2:c.5227_5232del | NP_001136240.1:p.Ala1743_Pro1744del | |
| NM_001142769.3:c.4409+2697_4409+2702del | NP_001136241.1:n.4409+2697_4409+2702del | |
| NM_001142770.3:c.4373+2697_4373+2702del | NP_001136242.1:n.4373+2697_4373+2702del | |
| NM_001142771.2:c.4388+2697_4388+2702del | NP_001136243.1:n.4388+2697_4388+2702del | |
| NM_001142772.2:c.4373+2697_4373+2702del | NP_001136244.1:n.4373+2697_4373+2702del | |
| NM_001142773.2:c.5218_5223del | NP_001136245.1:p.Ala1740_Pro1741del | |
| NM_001354411.2:c.4388+4954_4388+4959del | NP_001341340.1:n.4388+4954_4388+4959del | |
| NM_001354420.2:c.4367+4954_4367+4959del | NP_001341349.1:n.4367+4954_4367+4959del | |
| NM_001354429.2:c.4368-4426_4368-4421del | NP_001341358.1:n.4368-4426_4368-4421del | |
| NM_033056.4:c.5287_5292del MANE Plus Clinical | NP_149045.3:p.Ala1763_Pro1764del | |
| NM_001142767.2:c.5167_5172del | NP_001136239.1:p.Ala1723_Pro1724del | |
| NM_001354404.2:c.5221_5226del | NP_001341333.1:p.Ala1741_Pro1742del | |
| NM_001384140.1:c.4368-2209_4368-2204del MANE Select | NP_001371069.1:n.4368-2209_4368-2204del |