Linked Data
ClinVar Variation Id:
5659
ClinVar RCV Id:
RCV000006013
dbSNP Id:
rs587777751
PubMed:
PMID:10610178
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32136950del , CM000664.2:g.32136950del | GRCh38 |
| NC_000002.11:g.32362019del , CM000664.1:g.32362019del | GRCh37 |
| NC_000002.10:g.32215523del | NCBI36 |
| NG_008730.1:g.78340del , LRG_714:g.78340del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000704289.1:c.*1055del | ENSP00000515816.1:n.*1055del | |
| ENST00000315285.9:c.1395del MANE Select | ENSP00000320885.3:p.Leu466Ter | |
| ENST00000621856.2:c.1392del | ENSP00000482496.2:p.Leu465Ter | |
| ENST00000642281.1:c.1132del | ||
| ENST00000642455.1:c.1296del | ENSP00000493827.1:p.Leu433Ter | |
| ENST00000642751.1:c.1169del | ||
| ENST00000642999.1:c.1137del | ENSP00000496589.1:p.Leu380Ter | |
| ENST00000643327.1:c.481-159del | ||
| ENST00000643334.1:c.975del | ||
| ENST00000644408.1:c.1271del | ||
| ENST00000644954.1:c.1041del | ENSP00000494312.1:p.Leu348Ter | |
| ENST00000645159.1:n.2132del | ||
| ENST00000645671.1:c.845del | ||
| ENST00000645730.1:c.593-159del | ||
| ENST00000646082.1:c.1041del | ||
| ENST00000646571.1:c.1299del | ENSP00000495015.1:p.Leu434Ter | |
| ENST00000647007.1:n.1087del | ||
| ENST00000647133.1:c.895del | ||
| ENST00000315285.7:c.1395del | ENSP00000320885.3:p.Leu466Ter | |
| ENST00000345662.5:c.1299del | ENSP00000340817.1:p.Leu434Ter | |
| ENST00000615843.4:c.1395del | ENSP00000480893.1:p.Leu466Ter | |
| ENST00000621856.1:c.1137del | ENSP00000482496.1:p.Leu380Ter | |
| NM_014946.3:c.1395del , LRG_714t1:c.1395del | NP_055761.2:p.Leu466Ter | |
| NM_199436.1:c.1299del | NP_955468.1:p.Leu434Ter | |
| XM_005264516.3:c.1392del | XP_005264573.1:p.Leu465Ter | |
| XM_011533067.1:c.1395del | XP_011531369.1:p.Leu466Ter | |
| NM_001363823.1:c.1392del | NP_001350752.1:p.Leu465Ter | |
| NM_001363875.1:c.1296del | NP_001350804.1:p.Leu433Ter | |
| XM_005264516.5:c.1392del | XP_005264573.1:p.Leu465Ter | |
| XM_011533067.2:c.1395del | XP_011531369.1:p.Leu466Ter | |
| XM_017004778.2:c.1299del | XP_016860267.1:p.Leu434Ter | |
| NM_001363823.2:c.1392del | NP_001350752.1:p.Leu465Ter | |
| NM_001363875.2:c.1296del | NP_001350804.1:p.Leu433Ter | |
| NM_001377959.1:c.1299del | NP_001364888.1:p.Leu434Ter | |
| NM_014946.4:c.1395del MANE Select | NP_055761.2:p.Leu466Ter | |
| NM_199436.2:c.1299del | NP_955468.1:p.Leu434Ter |