Linked Data
ClinVar Variation Id:
808722
ClinVar RCV Id:
RCV000997107
dbSNP Id:
rs1573142681
gnomAD v4:
2-32128472-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32128476del , CM000664.2:g.32128476del | GRCh38 |
| NC_000002.11:g.32353545del , CM000664.1:g.32353545del | GRCh37 |
| NC_000002.10:g.32207049del | NCBI36 |
| NG_008730.1:g.69866del , LRG_714:g.69866del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704289.1:c.*902del | ENSP00000515816.1:n.*902del | |
| ENST00000315285.9:c.1242del MANE Select | ENSP00000320885.3:p.Lys414AsnfsTer10 | |
| ENST00000621856.2:c.1239del | ENSP00000482496.2:p.Lys413AsnfsTer10 | |
| ENST00000642281.1:c.983-8087del | ||
| ENST00000642455.1:c.1143del | ENSP00000493827.1:p.Lys381AsnfsTer10 | |
| ENST00000642751.1:c.1016del | ||
| ENST00000642999.1:c.984del | ENSP00000496589.1:p.Lys328AsnfsTer10 | |
| ENST00000643327.1:c.401del | ||
| ENST00000643334.1:c.822del | ||
| ENST00000644408.1:c.1118del | ||
| ENST00000644954.1:c.888del | ENSP00000494312.1:p.Lys296AsnfsTer10 | |
| ENST00000645159.1:n.1979del | ||
| ENST00000645550.1:n.455del | ||
| ENST00000645671.1:c.692del | ||
| ENST00000645730.1:c.589del | ||
| ENST00000646082.1:c.888del | ||
| ENST00000646571.1:c.1146del | ENSP00000495015.1:p.Lys382AsnfsTer10 | |
| ENST00000647007.1:n.934del | ||
| ENST00000647133.1:c.742del | ||
| ENST00000315285.7:c.1242del | ENSP00000320885.3:p.Lys414AsnfsTer10 | |
| ENST00000345662.5:c.1146del | ENSP00000340817.1:p.Lys382AsnfsTer10 | |
| ENST00000615843.4:c.1242del | ENSP00000480893.1:p.Lys414AsnfsTer10 | |
| ENST00000621856.1:c.984del | ENSP00000482496.1:p.Lys328AsnfsTer10 | |
| NM_014946.3:c.1242del , LRG_714t1:c.1242del | NP_055761.2:p.Lys414AsnfsTer10 | |
| NM_199436.1:c.1146del | NP_955468.1:p.Lys382AsnfsTer10 | |
| XM_005264516.3:c.1239del | XP_005264573.1:p.Lys413AsnfsTer10 | |
| XM_011533067.1:c.1242del | XP_011531369.1:p.Lys414AsnfsTer10 | |
| NM_001363823.1:c.1239del | NP_001350752.1:p.Lys413AsnfsTer10 | |
| NM_001363875.1:c.1143del | NP_001350804.1:p.Lys381AsnfsTer10 | |
| XM_005264516.5:c.1239del | XP_005264573.1:p.Lys413AsnfsTer10 | |
| XM_011533067.2:c.1242del | XP_011531369.1:p.Lys414AsnfsTer10 | |
| XM_017004778.2:c.1146del | XP_016860267.1:p.Lys382AsnfsTer10 | |
| NM_001363823.2:c.1239del | NP_001350752.1:p.Lys413AsnfsTer10 | |
| NM_001363875.2:c.1143del | NP_001350804.1:p.Lys381AsnfsTer10 | |
| NM_001377959.1:c.1146del | NP_001364888.1:p.Lys382AsnfsTer10 | |
| NM_014946.4:c.1242del MANE Select | NP_055761.2:p.Lys414AsnfsTer10 | |
| NM_199436.2:c.1146del | NP_955468.1:p.Lys382AsnfsTer10 |