Linked Data
ClinVar Variation Id:
557078
ClinVar RCV Id:
RCV000673169
dbSNP Id:
rs1555528745
gnomAD v4:
17-7223824-GA-G
MyVariant Identifiers:
chr17:g.7223826del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7223826del , CM000679.2:g.7223826del | GRCh38 |
| NC_000017.10:g.7127145del , CM000679.1:g.7127145del | GRCh37 |
| NC_000017.9:g.7067869del | NCBI36 |
| NG_007975.1:g.8993del | |
| NG_008391.2:g.1226del | |
| NG_033038.1:g.15720del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1283del MANE Select | ENSP00000349297.5:p.Lys428ArgfsTer2 | |
| ENST00000322910.9:c.*1238del | ENSP00000325395.5:n.*1238del | |
| ENST00000350303.9:c.1217del | ENSP00000344152.5:p.Lys406ArgfsTer2 | |
| ENST00000356839.9:c.1283del | ENSP00000349297.5:p.Lys428ArgfsTer2 | |
| ENST00000542255.6:c.141del | ||
| ENST00000543245.6:c.1352del | ENSP00000438689.2:p.Lys451ArgfsTer2 | |
| ENST00000578579.2:n.454del | ||
| ENST00000578711.1:n.322del | ||
| ENST00000578824.5:n.699del | ||
| ENST00000579425.5:n.307del | ||
| ENST00000579546.1:c.120del | ||
| ENST00000583074.5:n.2del | ||
| ENST00000583850.5:n.58del | ||
| ENST00000583858.5:c.312del | ||
| ENST00000585203.6:n.491del | ||
| NM_000018.3:c.1283del | NP_000009.1:p.Lys428ArgfsTer2 | |
| NM_001033859.2:c.1217del | NP_001029031.1:p.Lys406ArgfsTer2 | |
| NM_001270447.1:c.1352del | NP_001257376.1:p.Lys451ArgfsTer2 | |
| NM_001270448.1:c.1055del | NP_001257377.1:p.Lys352ArgfsTer2 | |
| XM_006721516.2:c.1283del | XP_006721579.2:p.Lys428ArgfsTer2 | |
| XM_011523829.1:c.1283del | XP_011522131.1:p.Lys428ArgfsTer2 | |
| XM_011523830.1:c.1283del | XP_011522132.1:p.Lys428ArgfsTer2 | |
| XR_934021.1:n.1390del | ||
| XR_934022.1:n.1390del | ||
| XR_934023.1:n.1390del | ||
| XM_006721516.3:c.1283del | XP_006721579.2:p.Lys428ArgfsTer2 | |
| XM_011523829.2:c.1283del | XP_011522131.1:p.Lys428ArgfsTer2 | |
| XM_011523830.2:c.1283del | XP_011522132.1:p.Lys428ArgfsTer2 | |
| XM_024450741.1:c.1283del | XP_024306509.1:p.Lys428ArgfsTer2 | |
| XR_934021.2:n.1342del | ||
| XR_934022.2:n.1342del | ||
| XR_934023.2:n.1342del | ||
| NM_000018.4:c.1283del MANE Select | NP_000009.1:p.Lys428ArgfsTer2 | |
| NM_001033859.3:c.1217del | NP_001029031.1:p.Lys406ArgfsTer2 | |
| NM_001270447.2:c.1352del | NP_001257376.1:p.Lys451ArgfsTer2 | |
| NM_001270448.2:c.1055del | NP_001257377.1:p.Lys352ArgfsTer2 |