Linked Data
dbSNP Id:
rs748122733
ExAC:
19:51411665 G / GT
gnomAD v2:
19-51411665-G-GT
gnomAD v4:
19-50908409-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50908409_50908410insT , CM000681.2:g.50908409_50908410insT | GRCh38 |
| NC_000019.9:g.51411665_51411666insT , CM000681.1:g.51411665_51411666insT | GRCh37 |
| NC_000019.8:g.56103477_56103478insT | NCBI36 |
| NG_012154.2:g.7329_7330insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324041.6:c.561_562insA MANE Select | ENSP00000326159.1:p.Pro188ThrfsTer19 | |
| ENST00000324041.5:c.561_562insA | ENSP00000326159.1:p.Pro188ThrfsTer19 | |
| ENST00000431178.2:c.328+169_328+170insA | ENSP00000399448.2:n.328+169_328+170insA | |
| ENST00000593885.1:c.*56_*57insA | ENSP00000469769.1:n.*56_*57insA | |
| ENST00000596876.1:n.563_564insA | ||
| ENST00000598305.5:c.*56_*57insA | ENSP00000469963.1:n.*56_*57insA | |
| ENST00000599865.5:n.497_498insA | ||
| ENST00000602148.1:c.573_574insA | ENSP00000472091.1:n.573_574insA | |
| NM_001302961.1:c.276_277insA | NP_001289890.1:p.Pro93ThrfsTer19 | |
| NM_004917.4:c.561_562insA | NP_004908.4:p.Pro188ThrfsTer19 | |
| NR_126566.1:n.550_551insA | ||
| XM_005259441.3:c.276_277insA | XP_005259498.2:p.Pro93ThrfsTer19 | |
| XM_011527545.1:c.*56_*57insA | XP_011525847.1:n.*56_*57insA | |
| XM_011527546.1:c.475+169_475+170insA | XP_011525848.1:n.475+169_475+170insA | |
| XM_011527547.1:c.414_415insA | XP_011525849.1:p.Pro139ThrfsTer19 | |
| XM_005259441.4:c.276_277insA | XP_005259498.2:p.Pro93ThrfsTer19 | |
| XM_011527545.3:c.*56_*57insA | XP_011525847.1:n.*56_*57insA | |
| XM_011527546.2:c.475+169_475+170insA | XP_011525848.1:n.475+169_475+170insA | |
| NM_001302961.2:c.276_277insA | NP_001289890.1:p.Pro93ThrfsTer19 | |
| NR_126566.2:n.550_551insA | ||
| NM_004917.5:c.561_562insA MANE Select | NP_004908.4:p.Pro188ThrfsTer19 |