Linked Data
ClinVar Variation Id:
544300
ClinVar RCV Id:
RCV000655415
dbSNP Id:
rs1554928786
MyVariant Identifiers:
chr10:g.123276832_123276833insTGTTGA (hg19)
chr10:g.121517318_121517319insTGTTGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.121517318_121517319insTGTTGA , CM000672.2:g.121517318_121517319insTGTTGA | GRCh38 |
| NC_000010.10:g.123276832_123276833insTGTTGA , CM000672.1:g.123276832_123276833insTGTTGA | GRCh37 |
| NC_000010.9:g.123266822_123266823insTGTTGA | NCBI36 |
| NG_012449.1:g.86140_86141insTCAACA | |
| NG_012449.2:g.86140_86141insTCAACA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000457416.7:c.1087+1363_1087+1364insTCAACA MANE Plus Clinical | ENSP00000410294.2:n.1087+1363_1087+1364in... | |
| ENST00000351936.11:c.1084_1084+1insTCAACA | ENSP00000309878.10:n.1084_1084+1insTCAACA... | |
| ENST00000638709.2:c.-87_-87+1insTCAACA | ENSP00000491912.2:n.-87_-87+1insTCAACA | |
| ENST00000682296.1:n.432_432+1insTCAACA | ||
| ENST00000682400.1:n.739_740insTCAACA | ||
| ENST00000682550.1:c.739_739+1insTCAACA | ENSP00000507633.1:n.739_739+1insTCAACA | |
| ENST00000682772.1:c.-87_-87+1insTCAACA | ENSP00000506848.1:n.-87_-87+1insTCAACA | |
| ENST00000683211.1:c.1084_1084+1insTCAACA | ENSP00000508257.1:n.1084_1084+1insTCAACA | |
| ENST00000683250.1:c.404-13378_404-13377insTCAACA | ENSP00000506847.1:n.404-13378_404-13377in... | |
| ENST00000683418.1:n.3431_3431+1insTCAACA | ||
| ENST00000683678.1:n.1084_1085insTCAACA | ||
| ENST00000684153.1:c.739_739+1insTCAACA | ENSP00000506937.1:n.739_739+1insTCAACA | |
| ENST00000358487.10:c.1084_1084+1insTCAACA MANE Select | ENSP00000351276.6:n.1084_1084+1insTCAACA | |
| ENST00000336553.10:c.817_817+1insTCAACA | ENSP00000337665.6:n.817_817+1insTCAACA | |
| ENST00000346997.6:c.1084_1084+1insTCAACA | ENSP00000263451.5:n.1084_1084+1insTCAACA | |
| ENST00000351936.10:c.1090_1090+1insTCAACA | ENSP00000309878.9:n.1090_1090+1insTCAACA | |
| ENST00000356226.8:c.739_739+1insTCAACA | ENSP00000348559.4:n.739_739+1insTCAACA | |
| ENST00000357555.9:c.817_817+1insTCAACA | ENSP00000350166.5:n.817_817+1insTCAACA | |
| ENST00000358487.9:c.1084_1084+1insTCAACA | ENSP00000351276.5:n.1084_1084+1insTCAACA | |
| ENST00000360144.7:c.820+1363_820+1364insTCAACA | ENSP00000353262.3:n.820+1363_820+1364insT... | |
| ENST00000369056.5:c.1087+1363_1087+1364insTCAACA | ENSP00000358052.1:n.1087+1363_1087+1364in... | |
| ENST00000369058.7:c.1087+1363_1087+1364insTCAACA | ENSP00000358054.3:n.1087+1363_1087+1364in... | |
| ENST00000369059.5:c.742+1363_742+1364insTCAACA | ENSP00000358055.1:n.742+1363_742+1364insT... | |
| ENST00000369060.8:c.939+2660_939+2661insTCAACA | ENSP00000358056.4:n.939+2660_939+2661insT... | |
| ENST00000369061.8:c.749-2000_749-1999insTCAACA | ENSP00000358057.4:n.749-2000_749-1999insT... | |
| ENST00000457416.6:c.1087+1363_1087+1364insTCAACA | ENSP00000410294.2:n.1087+1363_1087+1364in... | |
| ENST00000463870.5:n.293_293+1insTCAACA | ||
| ENST00000478859.5:c.400_400+1insTCAACA | ENSP00000474011.1:n.400_400+1insTCAACA | |
| ENST00000604236.5:c.*131_*131+1insTCAACA | ENSP00000474109.1:n.*131_*131+1insTCAACA | |
| ENST00000613048.4:c.817_817+1insTCAACA | ENSP00000484154.1:n.817_817+1insTCAACA | |
| NM_000141.4:c.1084_1084+1insTCAACA | NP_000132.3:n.1084_1084+1insTCAACA | |
| NM_001144913.1:c.1087+1363_1087+1364insTCAACA | NP_001138385.1:n.1087+1363_1087+1364insTC... | |
| NM_001144914.1:c.749-2000_749-1999insTCAACA | NP_001138386.1:n.749-2000_749-1999insTCAA... | |
| NM_001144915.1:c.817_817+1insTCAACA | NP_001138387.1:n.817_817+1insTCAACA | |
| NM_001144916.1:c.739_739+1insTCAACA | NP_001138388.1:n.739_739+1insTCAACA | |
| NM_001144917.1:c.939+2660_939+2661insTCAACA | NP_001138389.1:n.939+2660_939+2661insTCAA... | |
| NM_001144918.1:c.739_739+1insTCAACA | NP_001138390.1:n.739_739+1insTCAACA | |
| NM_001144919.1:c.820+1363_820+1364insTCAACA | NP_001138391.1:n.820+1363_820+1364insTCAA... | |
| NM_022970.3:c.1087+1363_1087+1364insTCAACA | NP_075259.4:n.1087+1363_1087+1364insTCAAC... | |
| NM_023029.2:c.817_817+1insTCAACA | NP_075418.1:n.817_817+1insTCAACA | |
| NR_073009.1:n.1534_1534+1insTCAACA | ||
| XM_006717708.2:c.1144+1363_1144+1364insTCAACA | XP_006717771.1:n.1144+1363_1144+1364insTC... | |
| XM_006717709.2:c.1141_1141+1insTCAACA | XP_006717772.1:n.1141_1141+1insTCAACA | |
| XM_006717710.2:c.1144+1363_1144+1364insTCAACA | XP_006717773.1:n.1144+1363_1144+1364insTC... | |
| XM_006717711.2:c.877+1363_877+1364insTCAACA | XP_006717774.1:n.877+1363_877+1364insTCAA... | |
| XM_006717712.2:c.799+1363_799+1364insTCAACA | XP_006717775.1:n.799+1363_799+1364insTCAA... | |
| XM_006717713.2:c.1141_1141+1insTCAACA | XP_006717776.1:n.1141_1141+1insTCAACA | |
| XM_011539510.1:c.400_400+1insTCAACA | XP_011537812.1:n.400_400+1insTCAACA | |
| NM_001320654.1:c.400_400+1insTCAACA | NP_001307583.1:n.400_400+1insTCAACA | |
| NM_001320658.1:c.1084_1084+1insTCAACA | NP_001307587.1:n.1084_1084+1insTCAACA | |
| XM_006717708.3:c.1144+1363_1144+1364insTCAACA | XP_006717771.1:n.1144+1363_1144+1364insTC... | |
| XM_006717710.4:c.1144+1363_1144+1364insTCAACA | XP_006717773.1:n.1144+1363_1144+1364insTC... | |
| XM_017015920.2:c.1144+1363_1144+1364insTCAACA | XP_016871409.1:n.1144+1363_1144+1364insTC... | |
| XM_017015921.2:c.1141_1141+1insTCAACA | XP_016871410.1:n.1141_1141+1insTCAACA | |
| XM_017015924.2:c.796_796+1insTCAACA | XP_016871413.1:n.796_796+1insTCAACA | |
| XM_017015925.2:c.796_796+1insTCAACA | XP_016871414.1:n.796_796+1insTCAACA | |
| XM_024447887.1:c.874_874+1insTCAACA | XP_024303655.1:n.874_874+1insTCAACA | |
| XM_024447888.1:c.877+1363_877+1364insTCAACA | XP_024303656.1:n.877+1363_877+1364insTCAA... | |
| XM_024447889.1:c.874_874+1insTCAACA | XP_024303657.1:n.874_874+1insTCAACA | |
| XM_024447890.1:c.877+1363_877+1364insTCAACA | XP_024303658.1:n.877+1363_877+1364insTCAA... | |
| XM_024447891.1:c.799+1363_799+1364insTCAACA | XP_024303659.1:n.799+1363_799+1364insTCAA... | |
| XM_024447892.1:c.-87_-87+1insTCAACA | XP_024303660.1:n.-87_-87+1insTCAACA | |
| NM_000141.5:c.1084_1084+1insTCAACA MANE Select | NP_000132.3:n.1084_1084+1insTCAACA | |
| NM_001144917.2:c.939+2660_939+2661insTCAACA | NP_001138389.1:n.939+2660_939+2661insTCAA... | |
| NM_001144918.2:c.739_739+1insTCAACA | NP_001138390.1:n.739_739+1insTCAACA | |
| NM_001144919.2:c.820+1363_820+1364insTCAACA | NP_001138391.1:n.820+1363_820+1364insTCAA... | |
| NM_001320658.2:c.1084_1084+1insTCAACA | NP_001307587.1:n.1084_1084+1insTCAACA | |
| NR_073009.2:n.1520_1520+1insTCAACA | ||
| NM_001144915.2:c.817_817+1insTCAACA | NP_001138387.1:n.817_817+1insTCAACA | |
| NM_001144916.2:c.739_739+1insTCAACA | NP_001138388.1:n.739_739+1insTCAACA | |
| NM_001320654.2:c.400_400+1insTCAACA | NP_001307583.1:n.400_400+1insTCAACA |