Linked Data
dbSNP Id:
rs1564913976
gnomAD v2:
10-123277027-T-TGTGGAGGGGGCTGTGGAATGATC
gnomAD v4:
10-121517513-T-TGTGGAGGGGGCTGTGGAATGATC
MyVariant Identifiers:
chr10:g.123277027_123277028insGTGGAGGGGGCTGTGGAATGATC (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.121517531_121517532insTGATCGTGGAGGGGGCTGTGGAA , CM000672.2:g.121517531_121517532insTGATCGTGGAGGGGGCTGTGGAA | GRCh38 |
| NC_000010.10:g.123277045_123277046insTGATCGTGGAGGGGGCTGTGGAA , CM000672.1:g.123277045_123277046insTGATCGTGGAGGGGGCTGTGGAA | GRCh37 |
| NC_000010.9:g.123267035_123267036insTGATCGTGGAGGGGGCTGTGGAA | NCBI36 |
| NG_012449.1:g.85945_85946insGATCATTCCACAGCCCCCTCCAC | |
| NG_012449.2:g.85945_85946insGATCATTCCACAGCCCCCTCCAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000457416.7:c.1087+1168_1087+1169insGATCATTCCACAGCCCCCTCCAC MANE Plus Clinical | ENSP00000410294.2:n.1087+1168_1087+1169insGATCATTCCACAGCCCCCT... | |
| ENST00000351936.11:c.940-51_940-50insGATCATTCCACAGCCCCCTCCAC | ENSP00000309878.10:n.940-51_940-50insGATCATTCCACAGCCCCCTCCAC | |
| ENST00000638709.2:c.-231-51_-231-50insGATCATTCCACAGCCCCCTCCAC | ENSP00000491912.2:n.-231-51_-231-50insGATCATTCCACAGCCCCCTCCAC... | |
| ENST00000682296.1:n.288-51_288-50insGATCATTCCACAGCCCCCTCCAC | ||
| ENST00000682400.1:n.595-51_595-50insGATCATTCCACAGCCCCCTCCAC | ||
| ENST00000682550.1:c.595-51_595-50insGATCATTCCACAGCCCCCTCCAC | ENSP00000507633.1:n.595-51_595-50insGATCATTCCACAGCCCCCTCCAC | |
| ENST00000682772.1:c.-231-51_-231-50insGATCATTCCACAGCCCCCTCCAC | ENSP00000506848.1:n.-231-51_-231-50insGATCATTCCACAGCCCCCTCCAC... | |
| ENST00000683211.1:c.940-51_940-50insGATCATTCCACAGCCCCCTCCAC | ENSP00000508257.1:n.940-51_940-50insGATCATTCCACAGCCCCCTCCAC | |
| ENST00000683250.1:c.404-13573_404-13572insGATCATTCCACAGCCCCCTCCAC | ENSP00000506847.1:n.404-13573_404-13572insGATCATTCCACAGCCCCCT... | |
| ENST00000683418.1:n.3287-51_3287-50insGATCATTCCACAGCCCCCTCCAC | ||
| ENST00000683678.1:n.940-51_940-50insGATCATTCCACAGCCCCCTCCAC | ||
| ENST00000684153.1:c.595-51_595-50insGATCATTCCACAGCCCCCTCCAC | ENSP00000506937.1:n.595-51_595-50insGATCATTCCACAGCCCCCTCCAC | |
| ENST00000358487.10:c.940-51_940-50insGATCATTCCACAGCCCCCTCCAC MANE Select | ENSP00000351276.6:n.940-51_940-50insGATCATTCCACAGCCCCCTCCAC | |
| ENST00000336553.10:c.673-51_673-50insGATCATTCCACAGCCCCCTCCAC | ENSP00000337665.6:n.673-51_673-50insGATCATTCCACAGCCCCCTCCAC | |
| ENST00000346997.6:c.940-51_940-50insGATCATTCCACAGCCCCCTCCAC | ENSP00000263451.5:n.940-51_940-50insGATCATTCCACAGCCCCCTCCAC | |
| ENST00000351936.10:c.940-42_940-41insGATCATTCCACAGCCCCCTCCAC | ENSP00000309878.9:n.940-42_940-41insGATCATTCCACAGCCCCCTCCAC | |
| ENST00000356226.8:c.595-51_595-50insGATCATTCCACAGCCCCCTCCAC | ENSP00000348559.4:n.595-51_595-50insGATCATTCCACAGCCCCCTCCAC | |
| ENST00000357555.9:c.673-51_673-50insGATCATTCCACAGCCCCCTCCAC | ENSP00000350166.5:n.673-51_673-50insGATCATTCCACAGCCCCCTCCAC | |
| ENST00000358487.9:c.940-51_940-50insGATCATTCCACAGCCCCCTCCAC | ENSP00000351276.5:n.940-51_940-50insGATCATTCCACAGCCCCCTCCAC | |
| ENST00000360144.7:c.820+1168_820+1169insGATCATTCCACAGCCCCCTCCAC | ENSP00000353262.3:n.820+1168_820+1169insGATCATTCCACAGCCCCCTCC... | |
| ENST00000369056.5:c.1087+1168_1087+1169insGATCATTCCACAGCCCCCTCCAC | ENSP00000358052.1:n.1087+1168_1087+1169insGATCATTCCACAGCCCCCT... | |
| ENST00000369058.7:c.1087+1168_1087+1169insGATCATTCCACAGCCCCCTCCAC | ENSP00000358054.3:n.1087+1168_1087+1169insGATCATTCCACAGCCCCCT... | |
| ENST00000369059.5:c.742+1168_742+1169insGATCATTCCACAGCCCCCTCCAC | ENSP00000358055.1:n.742+1168_742+1169insGATCATTCCACAGCCCCCTCC... | |
| ENST00000369060.8:c.939+2465_939+2466insGATCATTCCACAGCCCCCTCCAC | ENSP00000358056.4:n.939+2465_939+2466insGATCATTCCACAGCCCCCTCC... | |
| ENST00000369061.8:c.749-2195_749-2194insGATCATTCCACAGCCCCCTCCAC | ENSP00000358057.4:n.749-2195_749-2194insGATCATTCCACAGCCCCCTCC... | |
| ENST00000457416.6:c.1087+1168_1087+1169insGATCATTCCACAGCCCCCTCCAC | ENSP00000410294.2:n.1087+1168_1087+1169insGATCATTCCACAGCCCCCT... | |
| ENST00000463870.5:n.149-51_149-50insGATCATTCCACAGCCCCCTCCAC | ||
| ENST00000478859.5:c.256-51_256-50insGATCATTCCACAGCCCCCTCCAC | ENSP00000474011.1:n.256-51_256-50insGATCATTCCACAGCCCCCTCCAC | |
| ENST00000490349.5:n.1349-51_1349-50insGATCATTCCACAGCCCCCTCCAC | ||
| ENST00000604236.5:c.743-51_743-50insGATCATTCCACAGCCCCCTCCAC | ENSP00000474109.1:n.743-51_743-50insGATCATTCCACAGCCCCCTCCAC | |
| ENST00000613048.4:c.673-51_673-50insGATCATTCCACAGCCCCCTCCAC | ENSP00000484154.1:n.673-51_673-50insGATCATTCCACAGCCCCCTCCAC | |
| NM_000141.4:c.940-51_940-50insGATCATTCCACAGCCCCCTCCAC | NP_000132.3:n.940-51_940-50insGATCATTCCACAGCCCCCTCCAC | |
| NM_001144913.1:c.1087+1168_1087+1169insGATCATTCCACAGCCCCCTCCAC | NP_001138385.1:n.1087+1168_1087+1169insGATCATTCCACAGCCCCCTCCA... | |
| NM_001144914.1:c.749-2195_749-2194insGATCATTCCACAGCCCCCTCCAC | NP_001138386.1:n.749-2195_749-2194insGATCATTCCACAGCCCCCTCCAC | |
| NM_001144915.1:c.673-51_673-50insGATCATTCCACAGCCCCCTCCAC | NP_001138387.1:n.673-51_673-50insGATCATTCCACAGCCCCCTCCAC | |
| NM_001144916.1:c.595-51_595-50insGATCATTCCACAGCCCCCTCCAC | NP_001138388.1:n.595-51_595-50insGATCATTCCACAGCCCCCTCCAC | |
| NM_001144917.1:c.939+2465_939+2466insGATCATTCCACAGCCCCCTCCAC | NP_001138389.1:n.939+2465_939+2466insGATCATTCCACAGCCCCCTCCAC | |
| NM_001144918.1:c.595-51_595-50insGATCATTCCACAGCCCCCTCCAC | NP_001138390.1:n.595-51_595-50insGATCATTCCACAGCCCCCTCCAC | |
| NM_001144919.1:c.820+1168_820+1169insGATCATTCCACAGCCCCCTCCAC | NP_001138391.1:n.820+1168_820+1169insGATCATTCCACAGCCCCCTCCAC | |
| NM_022970.3:c.1087+1168_1087+1169insGATCATTCCACAGCCCCCTCCAC | NP_075259.4:n.1087+1168_1087+1169insGATCATTCCACAGCCCCCTCCAC | |
| NM_023029.2:c.673-51_673-50insGATCATTCCACAGCCCCCTCCAC | NP_075418.1:n.673-51_673-50insGATCATTCCACAGCCCCCTCCAC | |
| NR_073009.1:n.1390-51_1390-50insGATCATTCCACAGCCCCCTCCAC | ||
| XM_006717708.2:c.1144+1168_1144+1169insGATCATTCCACAGCCCCCTCCAC | XP_006717771.1:n.1144+1168_1144+1169insGATCATTCCACAGCCCCCTCCA... | |
| XM_006717709.2:c.997-51_997-50insGATCATTCCACAGCCCCCTCCAC | XP_006717772.1:n.997-51_997-50insGATCATTCCACAGCCCCCTCCAC | |
| XM_006717710.2:c.1144+1168_1144+1169insGATCATTCCACAGCCCCCTCCAC | XP_006717773.1:n.1144+1168_1144+1169insGATCATTCCACAGCCCCCTCCA... | |
| XM_006717711.2:c.877+1168_877+1169insGATCATTCCACAGCCCCCTCCAC | XP_006717774.1:n.877+1168_877+1169insGATCATTCCACAGCCCCCTCCAC | |
| XM_006717712.2:c.799+1168_799+1169insGATCATTCCACAGCCCCCTCCAC | XP_006717775.1:n.799+1168_799+1169insGATCATTCCACAGCCCCCTCCAC | |
| XM_006717713.2:c.997-51_997-50insGATCATTCCACAGCCCCCTCCAC | XP_006717776.1:n.997-51_997-50insGATCATTCCACAGCCCCCTCCAC | |
| XM_011539510.1:c.256-51_256-50insGATCATTCCACAGCCCCCTCCAC | XP_011537812.1:n.256-51_256-50insGATCATTCCACAGCCCCCTCCAC | |
| NM_001320654.1:c.256-51_256-50insGATCATTCCACAGCCCCCTCCAC | NP_001307583.1:n.256-51_256-50insGATCATTCCACAGCCCCCTCCAC | |
| NM_001320658.1:c.940-51_940-50insGATCATTCCACAGCCCCCTCCAC | NP_001307587.1:n.940-51_940-50insGATCATTCCACAGCCCCCTCCAC | |
| XM_006717708.3:c.1144+1168_1144+1169insGATCATTCCACAGCCCCCTCCAC | XP_006717771.1:n.1144+1168_1144+1169insGATCATTCCACAGCCCCCTCCA... | |
| XM_006717710.4:c.1144+1168_1144+1169insGATCATTCCACAGCCCCCTCCAC | XP_006717773.1:n.1144+1168_1144+1169insGATCATTCCACAGCCCCCTCCA... | |
| XM_017015920.2:c.1144+1168_1144+1169insGATCATTCCACAGCCCCCTCCAC | XP_016871409.1:n.1144+1168_1144+1169insGATCATTCCACAGCCCCCTCCA... | |
| XM_017015921.2:c.997-51_997-50insGATCATTCCACAGCCCCCTCCAC | XP_016871410.1:n.997-51_997-50insGATCATTCCACAGCCCCCTCCAC | |
| XM_017015924.2:c.652-51_652-50insGATCATTCCACAGCCCCCTCCAC | XP_016871413.1:n.652-51_652-50insGATCATTCCACAGCCCCCTCCAC | |
| XM_017015925.2:c.652-51_652-50insGATCATTCCACAGCCCCCTCCAC | XP_016871414.1:n.652-51_652-50insGATCATTCCACAGCCCCCTCCAC | |
| XM_024447887.1:c.730-51_730-50insGATCATTCCACAGCCCCCTCCAC | XP_024303655.1:n.730-51_730-50insGATCATTCCACAGCCCCCTCCAC | |
| XM_024447888.1:c.877+1168_877+1169insGATCATTCCACAGCCCCCTCCAC | XP_024303656.1:n.877+1168_877+1169insGATCATTCCACAGCCCCCTCCAC | |
| XM_024447889.1:c.730-51_730-50insGATCATTCCACAGCCCCCTCCAC | XP_024303657.1:n.730-51_730-50insGATCATTCCACAGCCCCCTCCAC | |
| XM_024447890.1:c.877+1168_877+1169insGATCATTCCACAGCCCCCTCCAC | XP_024303658.1:n.877+1168_877+1169insGATCATTCCACAGCCCCCTCCAC | |
| XM_024447891.1:c.799+1168_799+1169insGATCATTCCACAGCCCCCTCCAC | XP_024303659.1:n.799+1168_799+1169insGATCATTCCACAGCCCCCTCCAC | |
| XM_024447892.1:c.-231-51_-231-50insGATCATTCCACAGCCCCCTCCAC | XP_024303660.1:n.-231-51_-231-50insGATCATTCCACAGCCCCCTCCAC | |
| NM_000141.5:c.940-51_940-50insGATCATTCCACAGCCCCCTCCAC MANE Select | NP_000132.3:n.940-51_940-50insGATCATTCCACAGCCCCCTCCAC | |
| NM_001144917.2:c.939+2465_939+2466insGATCATTCCACAGCCCCCTCCAC | NP_001138389.1:n.939+2465_939+2466insGATCATTCCACAGCCCCCTCCAC | |
| NM_001144918.2:c.595-51_595-50insGATCATTCCACAGCCCCCTCCAC | NP_001138390.1:n.595-51_595-50insGATCATTCCACAGCCCCCTCCAC | |
| NM_001144919.2:c.820+1168_820+1169insGATCATTCCACAGCCCCCTCCAC | NP_001138391.1:n.820+1168_820+1169insGATCATTCCACAGCCCCCTCCAC | |
| NM_001320658.2:c.940-51_940-50insGATCATTCCACAGCCCCCTCCAC | NP_001307587.1:n.940-51_940-50insGATCATTCCACAGCCCCCTCCAC | |
| NR_073009.2:n.1376-51_1376-50insGATCATTCCACAGCCCCCTCCAC | ||
| NM_001144915.2:c.673-51_673-50insGATCATTCCACAGCCCCCTCCAC | NP_001138387.1:n.673-51_673-50insGATCATTCCACAGCCCCCTCCAC | |
| NM_001144916.2:c.595-51_595-50insGATCATTCCACAGCCCCCTCCAC | NP_001138388.1:n.595-51_595-50insGATCATTCCACAGCCCCCTCCAC | |
| NM_001320654.2:c.256-51_256-50insGATCATTCCACAGCCCCCTCCAC | NP_001307583.1:n.256-51_256-50insGATCATTCCACAGCCCCCTCCAC |