Linked Data
ClinVar Variation Id:
30307
ClinVar RCV Id:
RCV000023242
dbSNP Id:
rs587776880
PubMed:
PMID:21217753
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.67181323_67181324del , CM000677.2:g.67181323_67181324del | GRCh38 |
| NC_000015.9:g.67473661_67473662del , CM000677.1:g.67473661_67473662del | GRCh37 |
| NC_000015.8:g.65260715_65260716del | NCBI36 |
| NG_011990.1:g.120467_120468del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000558428.6:c.156_157del | ENSP00000454165.2:p.Phe53ProfsTer? | |
| ENST00000558739.2:c.426_427del | ENSP00000453684.2:p.Phe143ProfsTer? | |
| ENST00000558827.2:c.156_157del | ENSP00000452767.2:p.Phe53ProfsTer? | |
| ENST00000559460.6:c.426_427del | ENSP00000453082.2:p.Phe143ProfsTer? | |
| ENST00000560424.2:c.741_742del | ENSP00000455540.2:p.Phe248ProfsTer? | |
| ENST00000327367.9:c.741_742del MANE Select | ENSP00000332973.4:p.Phe248ProfsTer? | |
| ENST00000679624.1:c.426_427del | ENSP00000505445.1:p.Phe143ProfsTer? | |
| ENST00000680689.1:n.444_445del | ||
| ENST00000681239.1:c.426_427del | ENSP00000505641.1:p.Phe143ProfsTer? | |
| ENST00000327367.8:c.741_742del | ENSP00000332973.4:p.Phe248ProfsTer? | |
| ENST00000439724.7:c.609_610del | ENSP00000401133.3:p.Phe204ProfsTer? | |
| ENST00000537194.6:c.156_157del | ENSP00000445348.2:p.Phe53ProfsTer? | |
| ENST00000540846.6:c.426_427del | ENSP00000437757.2:p.Phe143ProfsTer? | |
| ENST00000558428.5:c.156_157del | ENSP00000454165.1:p.Phe53ProfsTer? | |
| ENST00000558827.1:c.156_157del | ENSP00000452767.1:p.Phe53ProfsTer? | |
| ENST00000558894.5:c.426_427del | ENSP00000458060.1:p.Phe143ProfsTer? | |
| ENST00000560402.1:n.282+6739_282+6740del | ||
| NM_001145102.1:c.426_427del | NP_001138574.1:p.Phe143ProfsTer? | |
| NM_001145103.1:c.609_610del | NP_001138575.1:p.Phe204ProfsTer? | |
| NM_001145104.1:c.156_157del | NP_001138576.1:p.Phe53ProfsTer? | |
| NM_005902.3:c.741_742del | NP_005893.1:p.Phe248ProfsTer? | |
| XM_011521559.1:c.609_610del | XP_011519861.1:p.Phe204ProfsTer? | |
| XM_011521560.1:c.594_595del | XP_011519862.1:p.Phe199ProfsTer? | |
| XM_011521559.3:c.609_610del | XP_011519861.1:p.Phe204ProfsTer? | |
| NM_005902.4:c.741_742del MANE Select | NP_005893.1:p.Phe248ProfsTer? | |
| NM_001145102.2:c.426_427del | NP_001138574.1:p.Phe143ProfsTer? | |
| NM_001145103.2:c.609_610del | NP_001138575.1:p.Phe204ProfsTer? | |
| NM_001145104.2:c.156_157del | NP_001138576.1:p.Phe53ProfsTer? |