Linked Data
dbSNP Id:
rs1360180716
gnomAD v3:
10-53823676-A-ACGTAACAGTTCC
gnomAD v4:
10-53823676-A-ACGTAACAGTTCC
MyVariant Identifiers:
chr10:g.55583436_55583437insCGTAACAGTTCC (hg19)
chr10:g.53823676_53823677insCGTAACAGTTCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.53823678_53823689dup , CM000672.2:g.53823678_53823689dup | GRCh38 |
| NC_000010.10:g.55583438_55583449dup , CM000672.1:g.55583438_55583449dup | GRCh37 |
| NC_000010.9:g.55253444_55253455dup | NCBI36 |
| NG_009191.2:g.982604_982615dup | |
| NG_009191.3:g.1810495_1810506dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613657.6:c.4409+1448_4409+1459dup | ENSP00000482794.1:n.4409+1448_4409+1459dup | |
| ENST00000320301.11:c.4368-330_4368-319dup MANE Plus Clinical | ENSP00000322604.6:n.4368-330_4368-319dup | |
| ENST00000395445.6:c.4388+3705_4388+3716dup | ENSP00000378832.2:n.4388+3705_4388+3716dup | |
| ENST00000613657.5:c.4409+1448_4409+1459dup | ENSP00000482794.1:n.4409+1448_4409+1459dup | |
| ENST00000642496.1:c.3227-3458_3227-3447dup | ||
| ENST00000644397.2:c.4368-3458_4368-3447dup MANE Select | ENSP00000495195.1:n.4368-3458_4368-3447dup | |
| ENST00000320301.10:c.4368-330_4368-319dup | ENSP00000322604.6:n.4368-330_4368-319dup | |
| ENST00000361849.7:c.4374-330_4374-319dup | ENSP00000354950.3:n.4374-330_4374-319dup | |
| ENST00000373956.7:c.*2323-330_*2323-319dup | ENSP00000363067.4:n.*2323-330_*2323-319dup | |
| ENST00000373957.7:c.4389-330_4389-319dup | ENSP00000363068.4:n.4389-330_4389-319dup | |
| ENST00000373965.6:c.4373+1448_4373+1459dup | ENSP00000363076.3:n.4373+1448_4373+1459dup | |
| ENST00000395430.5:c.4359-330_4359-319dup | ENSP00000378818.1:n.4359-330_4359-319dup | |
| ENST00000395432.6:c.4248-330_4248-319dup | ENSP00000378820.2:n.4248-330_4248-319dup | |
| ENST00000395433.5:c.4299-330_4299-319dup | ENSP00000378821.1:n.4299-330_4299-319dup | |
| ENST00000395438.5:c.4371+3704_4371+3715dup | ENSP00000378826.2:n.4371+3704_4371+3715dup | |
| ENST00000395440.5:c.1306-14142_1306-14131dup | ENSP00000378827.1:n.1306-14142_1306-14131dup | |
| ENST00000395442.5:c.1099-14142_1099-14131dup | ENSP00000378829.1:n.1099-14142_1099-14131dup | |
| ENST00000395445.5:c.4388+3705_4388+3716dup | ENSP00000378832.2:n.4388+3705_4388+3716dup | |
| ENST00000395446.5:c.2092-14142_2092-14131dup | ENSP00000378833.1:n.2092-14142_2092-14131dup | |
| ENST00000409834.5:c.3206+1448_3206+1459dup | ENSP00000386693.1:n.3206+1448_3206+1459dup | |
| ENST00000414367.5:c.*447+3705_*447+3716dup | ENSP00000412531.1:n.*447+3705_*447+3716dup | |
| ENST00000414778.5:c.4370+3705_4370+3716dup | ENSP00000410304.2:n.4370+3705_4370+3716dup | |
| ENST00000437009.5:c.4161-330_4161-319dup | ENSP00000412628.2:n.4161-330_4161-319dup | |
| ENST00000448885.5:c.*2329-330_*2329-319dup | ENSP00000412320.1:n.*2329-330_*2329-319dup | |
| ENST00000463095.2:n.1387-330_1387-319dup | ||
| ENST00000495484.5:c.462-5675_462-5664dup | ENSP00000480780.1:n.462-5675_462-5664dup | |
| ENST00000612394.4:c.4406+3705_4406+3716dup | ENSP00000482921.1:n.4406+3705_4406+3716dup | |
| ENST00000613657.4:c.4409+1448_4409+1459dup | ENSP00000482794.1:n.4409+1448_4409+1459dup | |
| ENST00000614895.4:c.4385+3705_4385+3716dup | ENSP00000478512.1:n.4385+3705_4385+3716dup | |
| ENST00000616114.4:c.4367+3705_4367+3716dup | ENSP00000483745.1:n.4367+3705_4367+3716dup | |
| ENST00000617051.4:c.4386-321_4386-310dup | ENSP00000484703.1:n.4386-321_4386-310dup | |
| ENST00000617271.4:c.4373+1448_4373+1459dup | ENSP00000478076.1:n.4373+1448_4373+1459dup | |
| ENST00000618301.4:c.593+3705_593+3716dup | ENSP00000482780.1:n.593+3705_593+3716dup | |
| ENST00000621708.4:c.4388+1448_4388+1459dup | ENSP00000484454.1:n.4388+1448_4388+1459dup | |
| ENST00000622048.4:c.4158-321_4158-310dup | ENSP00000482329.1:n.4158-321_4158-310dup | |
| NM_001142763.1:c.4389-330_4389-319dup | NP_001136235.1:n.4389-330_4389-319dup | |
| NM_001142764.1:c.4374-330_4374-319dup | NP_001136236.1:n.4374-330_4374-319dup | |
| NM_001142765.1:c.4161-330_4161-319dup | NP_001136237.1:n.4161-330_4161-319dup | |
| NM_001142766.1:c.4359-330_4359-319dup | NP_001136238.1:n.4359-330_4359-319dup | |
| NM_001142767.1:c.4248-330_4248-319dup | NP_001136239.1:n.4248-330_4248-319dup | |
| NM_001142768.1:c.4308-330_4308-319dup | NP_001136240.1:n.4308-330_4308-319dup | |
| NM_001142769.1:c.4409+1448_4409+1459dup | NP_001136241.1:n.4409+1448_4409+1459dup | |
| NM_001142770.1:c.4373+1448_4373+1459dup | NP_001136242.1:n.4373+1448_4373+1459dup | |
| NM_001142771.1:c.4388+1448_4388+1459dup | NP_001136243.1:n.4388+1448_4388+1459dup | |
| NM_001142772.1:c.4373+1448_4373+1459dup | NP_001136244.1:n.4373+1448_4373+1459dup | |
| NM_001142773.1:c.4299-330_4299-319dup | NP_001136245.1:n.4299-330_4299-319dup | |
| NM_033056.3:c.4368-330_4368-319dup | NP_149045.3:n.4368-330_4368-319dup | |
| NM_001142769.2:c.4409+1448_4409+1459dup | NP_001136241.1:n.4409+1448_4409+1459dup | |
| NM_001142770.2:c.4373+1448_4373+1459dup | NP_001136242.1:n.4373+1448_4373+1459dup | |
| NM_001354404.1:c.4302-330_4302-319dup | NP_001341333.1:n.4302-330_4302-319dup | |
| NM_001354411.1:c.4388+3705_4388+3716dup | NP_001341340.1:n.4388+3705_4388+3716dup | |
| NM_001354420.1:c.4367+3705_4367+3716dup | NP_001341349.1:n.4367+3705_4367+3716dup | |
| NM_001354429.1:c.4367+3705_4367+3716dup | NP_001341358.1:n.4367+3705_4367+3716dup | |
| XM_017016573.2:c.4388+1448_4388+1459dup | XP_016872062.1:n.4388+1448_4388+1459dup | |
| XR_001747192.2:n.5381-330_5381-319dup | ||
| XR_001747193.2:n.5372-330_5372-319dup | ||
| NM_001142763.2:c.4389-330_4389-319dup | NP_001136235.1:n.4389-330_4389-319dup | |
| NM_001142764.2:c.4374-330_4374-319dup | NP_001136236.1:n.4374-330_4374-319dup | |
| NM_001142765.2:c.4161-330_4161-319dup | NP_001136237.1:n.4161-330_4161-319dup | |
| NM_001142766.2:c.4359-330_4359-319dup | NP_001136238.1:n.4359-330_4359-319dup | |
| NM_001142768.2:c.4308-330_4308-319dup | NP_001136240.1:n.4308-330_4308-319dup | |
| NM_001142769.3:c.4409+1448_4409+1459dup | NP_001136241.1:n.4409+1448_4409+1459dup | |
| NM_001142770.3:c.4373+1448_4373+1459dup | NP_001136242.1:n.4373+1448_4373+1459dup | |
| NM_001142771.2:c.4388+1448_4388+1459dup | NP_001136243.1:n.4388+1448_4388+1459dup | |
| NM_001142772.2:c.4373+1448_4373+1459dup | NP_001136244.1:n.4373+1448_4373+1459dup | |
| NM_001142773.2:c.4299-330_4299-319dup | NP_001136245.1:n.4299-330_4299-319dup | |
| NM_001354411.2:c.4388+3705_4388+3716dup | NP_001341340.1:n.4388+3705_4388+3716dup | |
| NM_001354420.2:c.4367+3705_4367+3716dup | NP_001341349.1:n.4367+3705_4367+3716dup | |
| NM_001354429.2:c.4367+3705_4367+3716dup | NP_001341358.1:n.4367+3705_4367+3716dup | |
| NM_033056.4:c.4368-330_4368-319dup MANE Plus Clinical | NP_149045.3:n.4368-330_4368-319dup | |
| NM_001142767.2:c.4248-330_4248-319dup | NP_001136239.1:n.4248-330_4248-319dup | |
| NM_001354404.2:c.4302-330_4302-319dup | NP_001341333.1:n.4302-330_4302-319dup | |
| NM_001384140.1:c.4368-3458_4368-3447dup MANE Select | NP_001371069.1:n.4368-3458_4368-3447dup |