Linked Data
ClinVar Variation Id:
522433
ClinVar RCV Id:
RCV000625573
dbSNP Id:
rs1555528386
gnomAD v4:
17-7222287-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222288del , CM000679.2:g.7222288del | GRCh38 |
| NC_000017.10:g.7125607del , CM000679.1:g.7125607del | GRCh37 |
| NC_000017.9:g.7066331del | NCBI36 |
| NG_007975.1:g.7455del | |
| NG_008391.2:g.2763del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.864del MANE Select | ENSP00000349297.5:p.Phe288LeufsTer? | |
| ENST00000322910.9:c.*819del | ENSP00000325395.5:n.*819del | |
| ENST00000350303.9:c.798del | ENSP00000344152.5:p.Phe266LeufsTer? | |
| ENST00000356839.9:c.864del | ENSP00000349297.5:p.Phe288LeufsTer? | |
| ENST00000543245.6:c.933del | ENSP00000438689.2:p.Phe311LeufsTer? | |
| ENST00000577191.5:n.1036del | ||
| ENST00000581378.5:c.582del | ||
| ENST00000582379.1:n.248del | ||
| NM_000018.3:c.864del | NP_000009.1:p.Phe288LeufsTer? | |
| NM_001033859.2:c.798del | NP_001029031.1:p.Phe266LeufsTer? | |
| NM_001270447.1:c.933del | NP_001257376.1:p.Phe311LeufsTer? | |
| NM_001270448.1:c.636del | NP_001257377.1:p.Phe212LeufsTer? | |
| XM_006721516.2:c.864del | XP_006721579.2:p.Phe288LeufsTer? | |
| XM_011523829.1:c.864del | XP_011522131.1:p.Phe288LeufsTer? | |
| XM_011523830.1:c.864del | XP_011522132.1:p.Phe288LeufsTer? | |
| XR_934021.1:n.971del | ||
| XR_934022.1:n.971del | ||
| XR_934023.1:n.971del | ||
| XM_006721516.3:c.864del | XP_006721579.2:p.Phe288LeufsTer? | |
| XM_011523829.2:c.864del | XP_011522131.1:p.Phe288LeufsTer? | |
| XM_011523830.2:c.864del | XP_011522132.1:p.Phe288LeufsTer? | |
| XM_024450741.1:c.864del | XP_024306509.1:p.Phe288LeufsTer? | |
| XR_934021.2:n.923del | ||
| XR_934022.2:n.923del | ||
| XR_934023.2:n.923del | ||
| NM_000018.4:c.864del MANE Select | NP_000009.1:p.Phe288LeufsTer? | |
| NM_001033859.3:c.798del | NP_001029031.1:p.Phe266LeufsTer? | |
| NM_001270447.2:c.933del | NP_001257376.1:p.Phe311LeufsTer? | |
| NM_001270448.2:c.636del | NP_001257377.1:p.Phe212LeufsTer? |