Linked Data
ClinVar Variation Id:
393448
ClinVar RCV Id:
RCV000445487
dbSNP Id:
rs1057524901
ERepo:
CA16609265/MONDO:0015967/086
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44145190del , CM000669.2:g.44145190del | GRCh38 |
| NC_000007.13:g.44184789del , CM000669.1:g.44184789del | GRCh37 |
| NC_000007.12:g.44151314del | NCBI36 |
| NG_008847.1:g.49234del | |
| NG_008847.2:g.57981del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395796.8:c.*1342del | ENSP00000379142.4:n.*1342del | |
| ENST00000616242.5:c.*464del | ENSP00000482149.2:n.*464del | |
| ENST00000683378.1:n.570del | ||
| ENST00000336642.9:c.378del | ENSP00000338009.5:p.Ala127ArgfsTer? | |
| ENST00000345378.7:c.1347del | ENSP00000223366.2:p.Ala450ArgfsTer? | |
| ENST00000403799.8:c.1344del MANE Select | ENSP00000384247.3:p.Ala449ArgfsTer? | |
| ENST00000671824.1:c.1407del | ENSP00000500264.1:p.Ala470ArgfsTer? | |
| ENST00000672743.1:n.356del | ||
| ENST00000673284.1:c.1344del | ENSP00000499852.1:p.Ala449ArgfsTer15 | |
| ENST00000336642.8:c.396del | ENSP00000338009.4:p.Ala133ArgfsTer? | |
| ENST00000345378.6:c.1347del | ENSP00000223366.2:p.Ala450ArgfsTer? | |
| ENST00000395796.7:c.1341del | ENSP00000379142.3:p.Ala448ArgfsTer? | |
| ENST00000403799.7:c.1344del | ENSP00000384247.3:p.Ala449ArgfsTer? | |
| ENST00000437084.1:c.1293del | ENSP00000402840.1:p.Ala432ArgfsTer? | |
| ENST00000459642.1:n.724del | ||
| ENST00000616242.4:c.1341del | ENSP00000482149.1:p.Ala448ArgfsTer? | |
| NM_000162.3:c.1344del | NP_000153.1:p.Ala449ArgfsTer? | |
| NM_033507.1:c.1347del | NP_277042.1:p.Ala450ArgfsTer? | |
| NM_033508.1:c.1341del | NP_277043.1:p.Ala448ArgfsTer? | |
| NM_000162.4:c.1344del | NP_000153.1:p.Ala449ArgfsTer? | |
| NM_001354800.1:c.1344del | NP_001341729.1:p.Ala449ArgfsTer15 | |
| NM_001354801.1:c.333del | NP_001341730.1:p.Ala112ArgfsTer? | |
| NM_001354802.1:c.204del | NP_001341731.1:p.Ala69ArgfsTer15 | |
| NM_001354803.1:c.378del | NP_001341732.1:p.Ala127ArgfsTer? | |
| NM_033507.2:c.1347del | NP_277042.1:p.Ala450ArgfsTer? | |
| NM_033508.2:c.1341del | NP_277043.1:p.Ala448ArgfsTer? | |
| XM_024446707.1:c.204del | XP_024302475.1:p.Ala69ArgfsTer? | |
| NM_000162.5:c.1344del MANE Select | NP_000153.1:p.Ala449ArgfsTer? | |
| NM_033507.3:c.1347del | NP_277042.1:p.Ala450ArgfsTer? | |
| NM_033508.3:c.1341del | NP_277043.1:p.Ala448ArgfsTer? | |
| NM_001354803.2:c.378del | NP_001341732.1:p.Ala127ArgfsTer? |