Linked Data
ClinVar Variation Id:
935797
ClinVar RCV Id:
RCV001204462
dbSNP Id:
rs2071264706
gnomAD v3:
17-7222193-GA-G
gnomAD v4:
17-7222193-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222194del , CM000679.2:g.7222194del | GRCh38 |
| NC_000017.10:g.7125513del , CM000679.1:g.7125513del | GRCh37 |
| NC_000017.9:g.7066237del | NCBI36 |
| NG_007975.1:g.7361del | |
| NG_008391.2:g.2857del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.770del MANE Select | ENSP00000349297.5:p.Asp257AlafsTer19 | |
| ENST00000322910.9:c.*725del | ENSP00000325395.5:n.*725del | |
| ENST00000350303.9:c.704del | ENSP00000344152.5:p.Asp235AlafsTer19 | |
| ENST00000356839.9:c.770del | ENSP00000349297.5:p.Asp257AlafsTer19 | |
| ENST00000543245.6:c.839del | ENSP00000438689.2:p.Asp280AlafsTer19 | |
| ENST00000577191.5:n.942del | ||
| ENST00000581378.5:c.488del | ||
| ENST00000582379.1:n.154del | ||
| NM_000018.3:c.770del | NP_000009.1:p.Asp257AlafsTer19 | |
| NM_001033859.2:c.704del | NP_001029031.1:p.Asp235AlafsTer19 | |
| NM_001270447.1:c.839del | NP_001257376.1:p.Asp280AlafsTer19 | |
| NM_001270448.1:c.542del | NP_001257377.1:p.Asp181AlafsTer19 | |
| XM_006721516.2:c.770del | XP_006721579.2:p.Asp257AlafsTer19 | |
| XM_011523829.1:c.770del | XP_011522131.1:p.Asp257AlafsTer19 | |
| XM_011523830.1:c.770del | XP_011522132.1:p.Asp257AlafsTer19 | |
| XR_934021.1:n.877del | ||
| XR_934022.1:n.877del | ||
| XR_934023.1:n.877del | ||
| XM_006721516.3:c.770del | XP_006721579.2:p.Asp257AlafsTer19 | |
| XM_011523829.2:c.770del | XP_011522131.1:p.Asp257AlafsTer19 | |
| XM_011523830.2:c.770del | XP_011522132.1:p.Asp257AlafsTer19 | |
| XM_024450741.1:c.770del | XP_024306509.1:p.Asp257AlafsTer19 | |
| XR_934021.2:n.829del | ||
| XR_934022.2:n.829del | ||
| XR_934023.2:n.829del | ||
| NM_000018.4:c.770del MANE Select | NP_000009.1:p.Asp257AlafsTer19 | |
| NM_001033859.3:c.704del | NP_001029031.1:p.Asp235AlafsTer19 | |
| NM_001270447.2:c.839del | NP_001257376.1:p.Asp280AlafsTer19 | |
| NM_001270448.2:c.542del | NP_001257377.1:p.Asp181AlafsTer19 |