Linked Data
ClinVar Variation Id:
2507418
ClinVar RCV Id:
RCV003239316
gnomAD v4:
17-7224148-CAAAGG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224155_7224159del , CM000679.2:g.7224155_7224159del | GRCh38 |
| NC_000017.10:g.7127474_7127478del , CM000679.1:g.7127474_7127478del | GRCh37 |
| NC_000017.9:g.7068198_7068202del | NCBI36 |
| NG_007975.1:g.9322_9326del | |
| NG_008391.2:g.898_902del | |
| NG_033038.1:g.15392_15396del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1444_1448del MANE Select | ENSP00000349297.5:p.Lys482AlafsTer? | |
| ENST00000322910.9:c.*1399_*1403del | ENSP00000325395.5:n.*1399_*1403del | |
| ENST00000350303.9:c.1378_1382del | ENSP00000344152.5:p.Lys460AlafsTer? | |
| ENST00000356839.9:c.1444_1448del | ENSP00000349297.5:p.Lys482AlafsTer? | |
| ENST00000542255.6:c.302_306del | ||
| ENST00000543245.6:c.1513_1517del | ENSP00000438689.2:p.Lys505AlafsTer? | |
| ENST00000578711.1:n.651_655del | ||
| ENST00000579391.1:n.52_56del | ||
| ENST00000579425.5:n.560_564del | ||
| ENST00000579546.1:c.271+86_271+90del | ||
| ENST00000579894.5:n.231_235del | ||
| ENST00000583074.5:n.153+86_153+90del | ||
| ENST00000583850.5:n.219_223del | ||
| ENST00000583858.5:c.463+86_463+90del | ||
| ENST00000585203.6:n.635_639del | ||
| NM_000018.3:c.1444_1448del | NP_000009.1:p.Lys482AlafsTer? | |
| NM_001033859.2:c.1378_1382del | NP_001029031.1:p.Lys460AlafsTer? | |
| NM_001270447.1:c.1513_1517del | NP_001257376.1:p.Lys505AlafsTer? | |
| NM_001270448.1:c.1216_1220del | NP_001257377.1:p.Lys406AlafsTer? | |
| XM_006721516.2:c.1444_1448del | XP_006721579.2:p.Lys482AlafsTer? | |
| XM_011523829.1:c.1434+86_1434+90del | XP_011522131.1:n.1434+86_1434+90del | |
| XM_011523830.1:c.1434+86_1434+90del | XP_011522132.1:n.1434+86_1434+90del | |
| XR_934021.1:n.1551_1555del | ||
| XR_934022.1:n.1541+86_1541+90del | ||
| XR_934023.1:n.1541+86_1541+90del | ||
| XM_006721516.3:c.1444_1448del | XP_006721579.2:p.Lys482AlafsTer? | |
| XM_011523829.2:c.1434+86_1434+90del | XP_011522131.1:n.1434+86_1434+90del | |
| XM_011523830.2:c.1434+86_1434+90del | XP_011522132.1:n.1434+86_1434+90del | |
| XM_024450741.1:c.1434+86_1434+90del | XP_024306509.1:n.1434+86_1434+90del | |
| XR_934021.2:n.1503_1507del | ||
| XR_934022.2:n.1493+86_1493+90del | ||
| XR_934023.2:n.1493+86_1493+90del | ||
| NM_000018.4:c.1444_1448del MANE Select | NP_000009.1:p.Lys482AlafsTer? | |
| NM_001033859.3:c.1378_1382del | NP_001029031.1:p.Lys460AlafsTer? | |
| NM_001270447.2:c.1513_1517del | NP_001257376.1:p.Lys505AlafsTer? | |
| NM_001270448.2:c.1216_1220del | NP_001257377.1:p.Lys406AlafsTer? |