Linked Data
dbSNP Id:
rs749178388
gnomAD v2:
10-21185965-G-GAA
gnomAD v4:
10-20897036-G-GAA
MyVariant Identifiers:
chr10:g.21185966_21185967insAA (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.20897043_20897044dup , CM000672.2:g.20897043_20897044dup | GRCh38 |
| NC_000010.10:g.21185972_21185973dup , CM000672.1:g.21185972_21185973dup | GRCh37 |
| NC_000010.9:g.21225978_21225979dup | NCBI36 |
| NG_017092.1:g.282150_282151dup , LRG_411:g.282150_282151dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377122.9:c.82-9_82-8dup MANE Select | ENSP00000366326.4:n.82-9_82-8dup | |
| ENST00000674540.1:n.369-9_369-8dup | ||
| ENST00000675114.1:n.565+64634_565+64635dup | ||
| ENST00000675700.1:n.380+64634_380+64635dup | ||
| ENST00000675702.1:n.636+64634_636+64635dup | ||
| ENST00000675747.1:n.2444-9_2444-8dup | ||
| ENST00000377119.5:n.92-9_92-8dup | ||
| ENST00000377122.8:c.82-9_82-8dup | ENSP00000366326.4:n.82-9_82-8dup | |
| ENST00000417816.2:c.357+64634_357+64635dup | ENSP00000393896.2:n.357+64634_357+64635dup | |
| ENST00000434381.1:c.34-9_34-8dup | ENSP00000396512.1:n.34-9_34-8dup | |
| NM_001173484.1:c.357+64634_357+64635dup | NP_001166955.1:n.357+64634_357+64635dup | |
| NM_006393.2:c.82-9_82-8dup , LRG_411t2:c.82-9_82-8dup | NP_006384.1:n.82-9_82-8dup | |
| NM_213569.2:c.357+64634_357+64635dup , LRG_411t1:c.357+64634_357+64635dup | NP_998734.1:n.357+64634_357+64635dup | |
| XM_005252342.3:c.82-9_82-8dup | XP_005252399.1:n.82-9_82-8dup | |
| XM_005252343.3:c.82-9_82-8dup | XP_005252400.1:n.82-9_82-8dup | |
| XM_005252344.3:c.82-9_82-8dup | XP_005252401.1:n.82-9_82-8dup | |
| XM_011519290.1:c.34-9_34-8dup | XP_011517592.1:n.34-9_34-8dup | |
| XM_011519291.1:c.34-9_34-8dup | XP_011517593.1:n.34-9_34-8dup | |
| XR_242691.3:n.194-9_194-8dup | ||
| XM_005252342.5:c.82-9_82-8dup | XP_005252399.1:n.82-9_82-8dup | |
| XM_005252343.5:c.82-9_82-8dup | XP_005252400.1:n.82-9_82-8dup | |
| XM_005252344.5:c.82-9_82-8dup | XP_005252401.1:n.82-9_82-8dup | |
| XM_011519291.2:c.34-9_34-8dup | XP_011517593.1:n.34-9_34-8dup | |
| XM_017015468.1:c.34-9_34-8dup | XP_016870957.1:n.34-9_34-8dup | |
| XR_001746995.2:n.1678-9_1678-8dup | ||
| XR_001746996.1:n.397-9_397-8dup | ||
| XR_242691.5:n.1678-9_1678-8dup | ||
| NM_001173484.2:c.357+64634_357+64635dup | NP_001166955.1:n.357+64634_357+64635dup | |
| NM_001377322.1:c.357+64634_357+64635dup | NP_001364251.1:n.357+64634_357+64635dup | |
| NM_001377323.1:c.309+64634_309+64635dup | NP_001364252.1:n.309+64634_309+64635dup | |
| NM_001377324.1:c.300+64634_300+64635dup | NP_001364253.1:n.300+64634_300+64635dup | |
| NM_001377325.1:c.291+64634_291+64635dup | NP_001364254.1:n.291+64634_291+64635dup | |
| NM_001377326.1:c.249+64634_249+64635dup | NP_001364255.1:n.249+64634_249+64635dup | |
| NM_001377327.1:c.249+64634_249+64635dup | NP_001364256.1:n.249+64634_249+64635dup | |
| NM_001377328.1:c.249+64634_249+64635dup | NP_001364257.1:n.249+64634_249+64635dup | |
| NM_006393.3:c.82-9_82-8dup MANE Select | NP_006384.1:n.82-9_82-8dup |