Linked Data
ClinVar Variation Id:
167425
dbSNP Id:
rs557936064
gnomAD v2:
10-55582183-GGAGGAGCAA-G
gnomAD v3:
10-53822423-GGAGGAGCAA-G
gnomAD v4:
10-53822423-GGAGGAGCAA-G
MyVariant Identifiers:
chr10:g.55582184_55582192del (hg19)
chr10:g.53822425_53822433del (hg38)
chr10:g.53822424_53822432del (hg38)
PubMed:
PMID:25307757
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.53822432_53822440del , CM000672.2:g.53822432_53822440del | GRCh38 |
| NC_000010.10:g.55582192_55582200del , CM000672.1:g.55582192_55582200del | GRCh37 |
| NC_000010.9:g.55252198_55252206del | NCBI36 |
| NG_009191.2:g.983860_983868del | |
| NG_009191.3:g.1811751_1811759del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000613657.6:c.4409+2704_4409+2712del | ENSP00000482794.1:n.4409+2704_4409+2712de... | |
| ENST00000320301.11:c.5294_5302del MANE Plus Clinical | ENSP00000322604.6:p.Leu1765_Pro1767del | |
| ENST00000395445.6:c.4388+4961_4388+4969del | ENSP00000378832.2:n.4388+4961_4388+4969de... | |
| ENST00000613657.5:c.4409+2704_4409+2712del | ENSP00000482794.1:n.4409+2704_4409+2712de... | |
| ENST00000642496.1:c.3227-2202_3227-2194del | ||
| ENST00000644397.2:c.4368-2202_4368-2194del MANE Select | ENSP00000495195.1:n.4368-2202_4368-2194de... | |
| ENST00000320301.10:c.5294_5302del | ENSP00000322604.6:p.Leu1765_Pro1767del | |
| ENST00000361849.7:c.5300_5308del | ENSP00000354950.3:p.Leu1767_Pro1769del | |
| ENST00000373956.7:c.*3249_*3257del | ENSP00000363067.4:n.*3249_*3257del | |
| ENST00000373957.7:c.5315_5323del | ENSP00000363068.4:p.Leu1772_Pro1774del | |
| ENST00000373965.6:c.4373+2704_4373+2712del | ENSP00000363076.3:n.4373+2704_4373+2712de... | |
| ENST00000395430.5:c.5285_5293del | ENSP00000378818.1:p.Leu1762_Pro1764del | |
| ENST00000395432.6:c.5174_5182del | ENSP00000378820.2:p.Leu1725_Pro1727del | |
| ENST00000395433.5:c.5225_5233del | ENSP00000378821.1:p.Leu1742_Pro1744del | |
| ENST00000395438.5:c.4371+4960_4371+4968del | ENSP00000378826.2:n.4371+4960_4371+4968de... | |
| ENST00000395440.5:c.1306-12886_1306-12878del | ENSP00000378827.1:n.1306-12886_1306-12878... | |
| ENST00000395442.5:c.1099-12886_1099-12878del | ENSP00000378829.1:n.1099-12886_1099-12878... | |
| ENST00000395445.5:c.4388+4961_4388+4969del | ENSP00000378832.2:n.4388+4961_4388+4969de... | |
| ENST00000395446.5:c.2092-12886_2092-12878del | ENSP00000378833.1:n.2092-12886_2092-12878... | |
| ENST00000409834.5:c.3206+2704_3206+2712del | ENSP00000386693.1:n.3206+2704_3206+2712de... | |
| ENST00000414367.5:c.*447+4961_*447+4969del | ENSP00000412531.1:n.*447+4961_*447+4969de... | |
| ENST00000414778.5:c.4370+4961_4370+4969del | ENSP00000410304.2:n.4370+4961_4370+4969de... | |
| ENST00000437009.5:c.5087_5095del | ENSP00000412628.2:p.Leu1696_Pro1698del | |
| ENST00000448885.5:c.*3255_*3263del | ENSP00000412320.1:n.*3255_*3263del | |
| ENST00000463095.2:n.2313_2321del | ||
| ENST00000495484.5:c.462-4419_462-4411del | ENSP00000480780.1:n.462-4419_462-4411del | |
| ENST00000612394.4:c.4406+4961_4406+4969del | ENSP00000482921.1:n.4406+4961_4406+4969de... | |
| ENST00000613657.4:c.4409+2704_4409+2712del | ENSP00000482794.1:n.4409+2704_4409+2712de... | |
| ENST00000614895.4:c.4385+4961_4385+4969del | ENSP00000478512.1:n.4385+4961_4385+4969de... | |
| ENST00000616114.4:c.4367+4961_4367+4969del | ENSP00000483745.1:n.4367+4961_4367+4969de... | |
| ENST00000617051.4:c.5321_5329del | ENSP00000484703.1:p.Leu1774_Pro1776del | |
| ENST00000617271.4:c.4373+2704_4373+2712del | ENSP00000478076.1:n.4373+2704_4373+2712de... | |
| ENST00000618301.4:c.594-4419_594-4411del | ENSP00000482780.1:n.594-4419_594-4411del | |
| ENST00000621708.4:c.4388+2704_4388+2712del | ENSP00000484454.1:n.4388+2704_4388+2712de... | |
| ENST00000622048.4:c.5093_5101del | ENSP00000482329.1:p.Leu1698_Pro1700del | |
| NM_001142763.1:c.5315_5323del | NP_001136235.1:p.Leu1772_Pro1774del | |
| NM_001142764.1:c.5300_5308del | NP_001136236.1:p.Leu1767_Pro1769del | |
| NM_001142765.1:c.5087_5095del | NP_001136237.1:p.Leu1696_Pro1698del | |
| NM_001142766.1:c.5285_5293del | NP_001136238.1:p.Leu1762_Pro1764del | |
| NM_001142767.1:c.5174_5182del | NP_001136239.1:p.Leu1725_Pro1727del | |
| NM_001142768.1:c.5234_5242del | NP_001136240.1:p.Leu1745_Pro1747del | |
| NM_001142769.1:c.4409+2704_4409+2712del | NP_001136241.1:n.4409+2704_4409+2712del | |
| NM_001142770.1:c.4373+2704_4373+2712del | NP_001136242.1:n.4373+2704_4373+2712del | |
| NM_001142771.1:c.4388+2704_4388+2712del | NP_001136243.1:n.4388+2704_4388+2712del | |
| NM_001142772.1:c.4373+2704_4373+2712del | NP_001136244.1:n.4373+2704_4373+2712del | |
| NM_001142773.1:c.5225_5233del | NP_001136245.1:p.Leu1742_Pro1744del | |
| NM_033056.3:c.5294_5302del | NP_149045.3:p.Leu1765_Pro1767del | |
| NM_001142769.2:c.4409+2704_4409+2712del | NP_001136241.1:n.4409+2704_4409+2712del | |
| NM_001142770.2:c.4373+2704_4373+2712del | NP_001136242.1:n.4373+2704_4373+2712del | |
| NM_001354404.1:c.5228_5236del | NP_001341333.1:p.Leu1743_Pro1745del | |
| NM_001354411.1:c.4388+4961_4388+4969del | NP_001341340.1:n.4388+4961_4388+4969del | |
| NM_001354420.1:c.4367+4961_4367+4969del | NP_001341349.1:n.4367+4961_4367+4969del | |
| NM_001354429.1:c.4368-4419_4368-4411del | NP_001341358.1:n.4368-4419_4368-4411del | |
| XM_017016573.2:c.4388+2704_4388+2712del | XP_016872062.1:n.4388+2704_4388+2712del | |
| XR_001747192.2:n.6307_6315del | ||
| XR_001747193.2:n.6298_6306del | ||
| NM_001142763.2:c.5315_5323del | NP_001136235.1:p.Leu1772_Pro1774del | |
| NM_001142764.2:c.5300_5308del | NP_001136236.1:p.Leu1767_Pro1769del | |
| NM_001142765.2:c.5087_5095del | NP_001136237.1:p.Leu1696_Pro1698del | |
| NM_001142766.2:c.5285_5293del | NP_001136238.1:p.Leu1762_Pro1764del | |
| NM_001142768.2:c.5234_5242del | NP_001136240.1:p.Leu1745_Pro1747del | |
| NM_001142769.3:c.4409+2704_4409+2712del | NP_001136241.1:n.4409+2704_4409+2712del | |
| NM_001142770.3:c.4373+2704_4373+2712del | NP_001136242.1:n.4373+2704_4373+2712del | |
| NM_001142771.2:c.4388+2704_4388+2712del | NP_001136243.1:n.4388+2704_4388+2712del | |
| NM_001142772.2:c.4373+2704_4373+2712del | NP_001136244.1:n.4373+2704_4373+2712del | |
| NM_001142773.2:c.5225_5233del | NP_001136245.1:p.Leu1742_Pro1744del | |
| NM_001354411.2:c.4388+4961_4388+4969del | NP_001341340.1:n.4388+4961_4388+4969del | |
| NM_001354420.2:c.4367+4961_4367+4969del | NP_001341349.1:n.4367+4961_4367+4969del | |
| NM_001354429.2:c.4368-4419_4368-4411del | NP_001341358.1:n.4368-4419_4368-4411del | |
| NM_033056.4:c.5294_5302del MANE Plus Clinical | NP_149045.3:p.Leu1765_Pro1767del | |
| NM_001142767.2:c.5174_5182del | NP_001136239.1:p.Leu1725_Pro1727del | |
| NM_001354404.2:c.5228_5236del | NP_001341333.1:p.Leu1743_Pro1745del | |
| NM_001384140.1:c.4368-2202_4368-2194del MANE Select | NP_001371069.1:n.4368-2202_4368-2194del |