Linked Data
ClinVar Variation Id:
375629
ClinVar RCV Id:
RCV000417095
dbSNP Id:
rs1057519628
PubMed:
PMID:23160955
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.37505534del , CM000683.2:g.37505534del | GRCh38 |
| NC_000021.8:g.38877837del , CM000683.1:g.38877837del | GRCh37 |
| NC_000021.7:g.37799707del | NCBI36 |
| NG_009366.1:g.142979del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000338785.8:c.1491del | ENSP00000342690.3:p.Ala498ProfsTer? | |
| ENST00000398960.7:c.1491del | ENSP00000381932.2:p.Ala498ProfsTer? | |
| ENST00000643624.1:c.1464del | ENSP00000493627.1:p.Ala489ProfsTer? | |
| ENST00000644942.1:c.1491del | ENSP00000494544.1:p.Ala498ProfsTer? | |
| ENST00000645424.1:c.1491del | ENSP00000494897.1:p.Ala498ProfsTer? | |
| ENST00000645774.1:c.1539del | ENSP00000494536.1:p.Ala514ProfsTer? | |
| ENST00000646224.1:n.906del | ||
| ENST00000646351.1:n.4209del | ||
| ENST00000646523.1:c.1491del | ENSP00000495632.1:p.Ala498ProfsTer? | |
| ENST00000646548.1:c.1464del | ENSP00000495908.1:p.Ala489ProfsTer? | |
| ENST00000647188.2:c.1464del MANE Select | ENSP00000494572.1:p.Ala489ProfsTer? | |
| ENST00000647425.1:c.1464del | ENSP00000496748.1:p.Ala489ProfsTer? | |
| ENST00000647504.1:c.1377del | ENSP00000495571.1:p.Ala460ProfsTer? | |
| ENST00000338785.7:c.1491del | ENSP00000342690.3:p.Ala498ProfsTer? | |
| ENST00000339659.8:c.1464del | ENSP00000340373.3:p.Ala489ProfsTer? | |
| ENST00000398956.2:c.1491del | ENSP00000381929.2:p.Ala498ProfsTer? | |
| ENST00000398960.6:c.1491del | ENSP00000381932.2:p.Ala498ProfsTer? | |
| NM_001396.3:c.1491del | NP_001387.2:p.Ala498ProfsTer? | |
| NM_101395.2:c.1491del | NP_567824.1:p.Ala498ProfsTer? | |
| NM_130436.2:c.1464del | NP_569120.1:p.Ala489ProfsTer? | |
| NM_130438.2:c.1491del | NP_569122.1:p.Ala498ProfsTer? | |
| XM_005260931.3:c.1404del | XP_005260988.1:p.Ala469ProfsTer? | |
| XM_005260933.3:c.807del | XP_005260990.1:p.Ala270ProfsTer? | |
| XM_006723976.2:c.1491del | XP_006724039.1:p.Ala498ProfsTer? | |
| XM_006723977.2:c.1491del | XP_006724040.1:p.Ala498ProfsTer? | |
| XM_006723978.2:c.1491del | XP_006724041.1:p.Ala498ProfsTer? | |
| XM_006723979.2:c.1464del | XP_006724042.1:p.Ala489ProfsTer? | |
| XM_011529482.1:c.1512del | XP_011527784.1:p.Ala505ProfsTer? | |
| XM_011529483.1:c.1491del | XP_011527785.1:p.Ala498ProfsTer? | |
| XM_011529484.1:c.1485del | XP_011527786.1:p.Ala496ProfsTer? | |
| XM_011529485.1:c.1377del | XP_011527787.1:p.Ala460ProfsTer? | |
| NM_001347721.1:c.1464del | NP_001334650.1:p.Ala489ProfsTer? | |
| NM_001347722.1:c.1464del | NP_001334651.1:p.Ala489ProfsTer? | |
| NM_001347723.1:c.1377del | NP_001334652.1:p.Ala460ProfsTer? | |
| NM_001396.4:c.1491del | NP_001387.2:p.Ala498ProfsTer? | |
| XM_005260933.5:c.807del | XP_005260990.1:p.Ala270ProfsTer? | |
| XM_006723976.3:c.1491del | XP_006724039.1:p.Ala498ProfsTer? | |
| XM_006723977.3:c.1491del | XP_006724040.1:p.Ala498ProfsTer? | |
| XM_006723978.3:c.1491del | XP_006724041.1:p.Ala498ProfsTer? | |
| XM_011529483.2:c.1491del | XP_011527785.1:p.Ala498ProfsTer? | |
| XM_017028284.1:c.1464del | XP_016883773.1:p.Ala489ProfsTer? | |
| XM_017028286.2:c.1404del | XP_016883775.1:p.Ala469ProfsTer? | |
| XM_024452057.1:c.1377del | XP_024307825.1:p.Ala460ProfsTer? | |
| NM_001347721.2:c.1464del MANE Select | NP_001334650.1:p.Ala489ProfsTer? | |
| NM_001347722.2:c.1464del | NP_001334651.1:p.Ala489ProfsTer? | |
| NM_001347723.2:c.1377del | NP_001334652.1:p.Ala460ProfsTer? | |
| NM_001396.5:c.1491del | NP_001387.2:p.Ala498ProfsTer? |