Linked Data
ClinVar Variation Id:
495345
ClinVar RCV Id:
RCV000586725
dbSNP Id:
rs1555528304
gnomAD v4:
17-7222036-CCT-C
PubMed:
PMID:11349232
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222037_7222038del , CM000679.2:g.7222037_7222038del | GRCh38 |
| NC_000017.10:g.7125356_7125357del , CM000679.1:g.7125356_7125357del | GRCh37 |
| NC_000017.9:g.7066080_7066081del | NCBI36 |
| NG_007975.1:g.7204_7205del | |
| NG_008391.2:g.3013_3014del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.708_709del MANE Select | ENSP00000349297.5:p.Cys237TrpfsTer15 | |
| ENST00000322910.9:c.*663_*664del | ENSP00000325395.5:n.*663_*664del | |
| ENST00000350303.9:c.642_643del | ENSP00000344152.5:p.Cys215TrpfsTer15 | |
| ENST00000356839.9:c.708_709del | ENSP00000349297.5:p.Cys237TrpfsTer15 | |
| ENST00000543245.6:c.777_778del | ENSP00000438689.2:p.Cys260TrpfsTer15 | |
| ENST00000577191.5:n.785_786del | ||
| ENST00000577857.5:n.524_525del | ||
| ENST00000579286.5:n.889_890del | ||
| ENST00000580365.1:n.439_440del | ||
| ENST00000581378.5:c.426_427del | ||
| ENST00000582379.1:n.92_93del | ||
| ENST00000583760.1:n.490_491del | ||
| NM_000018.3:c.708_709del | NP_000009.1:p.Cys237TrpfsTer15 | |
| NM_001033859.2:c.642_643del | NP_001029031.1:p.Cys215TrpfsTer15 | |
| NM_001270447.1:c.777_778del | NP_001257376.1:p.Cys260TrpfsTer15 | |
| NM_001270448.1:c.480_481del | NP_001257377.1:p.Cys161TrpfsTer15 | |
| XM_006721516.2:c.708_709del | XP_006721579.2:p.Cys237TrpfsTer15 | |
| XM_011523829.1:c.708_709del | XP_011522131.1:p.Cys237TrpfsTer15 | |
| XM_011523830.1:c.708_709del | XP_011522132.1:p.Cys237TrpfsTer15 | |
| XR_934021.1:n.815_816del | ||
| XR_934022.1:n.815_816del | ||
| XR_934023.1:n.815_816del | ||
| XM_006721516.3:c.708_709del | XP_006721579.2:p.Cys237TrpfsTer15 | |
| XM_011523829.2:c.708_709del | XP_011522131.1:p.Cys237TrpfsTer15 | |
| XM_011523830.2:c.708_709del | XP_011522132.1:p.Cys237TrpfsTer15 | |
| XM_024450741.1:c.708_709del | XP_024306509.1:p.Cys237TrpfsTer15 | |
| XR_934021.2:n.767_768del | ||
| XR_934022.2:n.767_768del | ||
| XR_934023.2:n.767_768del | ||
| NM_000018.4:c.708_709del MANE Select | NP_000009.1:p.Cys237TrpfsTer15 | |
| NM_001033859.3:c.642_643del | NP_001029031.1:p.Cys215TrpfsTer15 | |
| NM_001270447.2:c.777_778del | NP_001257376.1:p.Cys260TrpfsTer15 | |
| NM_001270448.2:c.480_481del | NP_001257377.1:p.Cys161TrpfsTer15 |