Linked Data
ClinVar Variation Id:
189008
dbSNP Id:
rs753108198
ExAC:
17:7125993 CCT / C
gnomAD v2:
17-7125993-CCT-C
gnomAD v3:
17-7222674-CCT-C
gnomAD v4:
17-7222674-CCT-C
ERepo:
CA274249/MONDO:0008723/021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222675_7222676del , CM000679.2:g.7222675_7222676del | GRCh38 |
| NC_000017.10:g.7125994_7125995del , CM000679.1:g.7125994_7125995del | GRCh37 |
| NC_000017.9:g.7066718_7066719del | NCBI36 |
| NG_007975.1:g.7842_7843del | |
| NG_008391.2:g.2375_2376del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.887_888del MANE Select | ENSP00000349297.5:p.Pro296ArgfsTer17 | |
| ENST00000322910.9:c.*842_*843del | ENSP00000325395.5:n.*842_*843del | |
| ENST00000350303.9:c.821_822del | ENSP00000344152.5:p.Pro274ArgfsTer17 | |
| ENST00000356839.9:c.887_888del | ENSP00000349297.5:p.Pro296ArgfsTer17 | |
| ENST00000543245.6:c.956_957del | ENSP00000438689.2:p.Pro319ArgfsTer17 | |
| ENST00000578824.5:n.36_37del | ||
| ENST00000581378.5:c.605_606del | ||
| ENST00000582379.1:n.271_272del | ||
| NM_000018.3:c.887_888del | NP_000009.1:p.Pro296ArgfsTer17 | |
| NM_001033859.2:c.821_822del | NP_001029031.1:p.Pro274ArgfsTer17 | |
| NM_001270447.1:c.956_957del | NP_001257376.1:p.Pro319ArgfsTer17 | |
| NM_001270448.1:c.659_660del | NP_001257377.1:p.Pro220ArgfsTer17 | |
| XM_006721516.2:c.887_888del | XP_006721579.2:p.Pro296ArgfsTer17 | |
| XM_011523829.1:c.887_888del | XP_011522131.1:p.Pro296ArgfsTer17 | |
| XM_011523830.1:c.887_888del | XP_011522132.1:p.Pro296ArgfsTer17 | |
| XR_934021.1:n.994_995del | ||
| XR_934022.1:n.994_995del | ||
| XR_934023.1:n.994_995del | ||
| XM_006721516.3:c.887_888del | XP_006721579.2:p.Pro296ArgfsTer17 | |
| XM_011523829.2:c.887_888del | XP_011522131.1:p.Pro296ArgfsTer17 | |
| XM_011523830.2:c.887_888del | XP_011522132.1:p.Pro296ArgfsTer17 | |
| XM_024450741.1:c.887_888del | XP_024306509.1:p.Pro296ArgfsTer17 | |
| XR_934021.2:n.946_947del | ||
| XR_934022.2:n.946_947del | ||
| XR_934023.2:n.946_947del | ||
| NM_000018.4:c.887_888del MANE Select | NP_000009.1:p.Pro296ArgfsTer17 | |
| NM_001033859.3:c.821_822del | NP_001029031.1:p.Pro274ArgfsTer17 | |
| NM_001270447.2:c.956_957del | NP_001257376.1:p.Pro319ArgfsTer17 | |
| NM_001270448.2:c.659_660del | NP_001257377.1:p.Pro220ArgfsTer17 |