Linked Data
ClinVar Variation Id:
2441843
ClinVar RCV Id:
RCV003148151
dbSNP Id:
rs752231020
ExAC:
17:15929924 A / AT
gnomAD v2:
17-15929924-A-AT
gnomAD v3:
17-16026610-A-AT
gnomAD v4:
17-16026610-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16026611dup , CM000679.2:g.16026611dup | GRCh38 |
| NC_000017.10:g.15929925dup , CM000679.1:g.15929925dup | GRCh37 |
| NC_000017.9:g.15870650dup | NCBI36 |
| NG_029806.1:g.32232dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261647.10:c.903dup MANE Select | ENSP00000261647.5:p.Met302TyrfsTer15 | |
| ENST00000261647.9:c.903dup | ENSP00000261647.5:p.Met302TyrfsTer15 | |
| ENST00000465567.1:n.626dup | ||
| ENST00000470649.1:c.156dup | ENSP00000465627.1:p.Met53TyrfsTer15 | |
| ENST00000475723.5:c.1087dup | ||
| ENST00000481107.1:n.1571dup | ||
| ENST00000497842.6:n.1107dup | ||
| ENST00000578103.1:c.92dup | ||
| NM_001271420.1:c.582dup | NP_001258349.1:p.Met195TyrfsTer15 | |
| NM_017775.3:c.903dup | NP_060245.3:p.Met302TyrfsTer15 | |
| XM_017024801.2:c.903dup | XP_016880290.2:p.Met302TyrfsTer15 | |
| XM_017024802.2:c.903dup | XP_016880291.2:p.Met302TyrfsTer15 | |
| NM_017775.4:c.903dup MANE Select | NP_060245.3:p.Met302TyrfsTer15 | |
| NM_001271420.2:c.582dup | NP_001258349.1:p.Met195TyrfsTer15 |