Linked Data
ClinVar Variation Id:
932848
ClinVar RCV Id:
RCV001200805
dbSNP Id:
rs2071295244
gnomAD v4:
17-7222825-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222827del , CM000679.2:g.7222827del | GRCh38 |
| NC_000017.10:g.7126146del , CM000679.1:g.7126146del | GRCh37 |
| NC_000017.9:g.7066870del | NCBI36 |
| NG_007975.1:g.7994del | |
| NG_008391.2:g.2225del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1039del MANE Select | ENSP00000349297.5:p.Ala347ProfsTer6 | |
| ENST00000322910.9:c.*994del | ENSP00000325395.5:n.*994del | |
| ENST00000350303.9:c.973del | ENSP00000344152.5:p.Ala325ProfsTer6 | |
| ENST00000356839.9:c.1039del | ENSP00000349297.5:p.Ala347ProfsTer6 | |
| ENST00000543245.6:c.1108del | ENSP00000438689.2:p.Ala370ProfsTer6 | |
| ENST00000578824.5:n.188del | ||
| ENST00000582379.1:n.423del | ||
| ENST00000583858.5:c.68del | ||
| NM_000018.3:c.1039del | NP_000009.1:p.Ala347ProfsTer6 | |
| NM_001033859.2:c.973del | NP_001029031.1:p.Ala325ProfsTer6 | |
| NM_001270447.1:c.1108del | NP_001257376.1:p.Ala370ProfsTer6 | |
| NM_001270448.1:c.811del | NP_001257377.1:p.Ala271ProfsTer6 | |
| XM_006721516.2:c.1039del | XP_006721579.2:p.Ala347ProfsTer6 | |
| XM_011523829.1:c.1039del | XP_011522131.1:p.Ala347ProfsTer6 | |
| XM_011523830.1:c.1039del | XP_011522132.1:p.Ala347ProfsTer6 | |
| XR_934021.1:n.1146del | ||
| XR_934022.1:n.1146del | ||
| XR_934023.1:n.1146del | ||
| XM_006721516.3:c.1039del | XP_006721579.2:p.Ala347ProfsTer6 | |
| XM_011523829.2:c.1039del | XP_011522131.1:p.Ala347ProfsTer6 | |
| XM_011523830.2:c.1039del | XP_011522132.1:p.Ala347ProfsTer6 | |
| XM_024450741.1:c.1039del | XP_024306509.1:p.Ala347ProfsTer6 | |
| XR_934021.2:n.1098del | ||
| XR_934022.2:n.1098del | ||
| XR_934023.2:n.1098del | ||
| NM_000018.4:c.1039del MANE Select | NP_000009.1:p.Ala347ProfsTer6 | |
| NM_001033859.3:c.973del | NP_001029031.1:p.Ala325ProfsTer6 | |
| NM_001270447.2:c.1108del | NP_001257376.1:p.Ala370ProfsTer6 | |
| NM_001270448.2:c.811del | NP_001257377.1:p.Ala271ProfsTer6 |