Linked Data
ClinVar Variation Id:
6389
ClinVar RCV Id:
RCV000006761
dbSNP Id:
rs797044440
PubMed:
PMID:15300964
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.112069395del , CM000668.2:g.112069395del | GRCh38 |
| NC_000006.11:g.112390598del , CM000668.1:g.112390598del | GRCh37 |
| NC_000006.10:g.112497291del | NCBI36 |
| NG_011748.1:g.20321del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368666.7:c.840del MANE Select | ENSP00000357655.4:p.Phe280LeufsTer? | |
| ENST00000639360.1:c.741del | ENSP00000491774.1:p.Phe247LeufsTer? | |
| ENST00000230529.9:c.840del | ENSP00000230529.5:p.Phe280LeufsTer? | |
| ENST00000361714.5:c.840del | ENSP00000354734.2:p.Phe280LeufsTer? | |
| ENST00000368663.4:c.*146del | ENSP00000357652.4:n.*146del | |
| ENST00000368664.7:c.*244del | ENSP00000357653.3:n.*244del | |
| ENST00000368666.6:c.894del | ENSP00000357655.3:p.Phe298LeufsTer? | |
| ENST00000409166.5:c.168del | ENSP00000386467.1:p.Phe56LeufsTer? | |
| ENST00000454589.5:c.*244del | ENSP00000395928.1:n.*244del | |
| ENST00000604763.5:c.840del | ENSP00000473777.1:p.Phe280LeufsTer? | |
| ENST00000613648.1:n.675del | ||
| ENST00000620524.3:n.771del | ||
| NM_003880.3:c.840del | NP_003871.1:p.Phe280LeufsTer? | |
| NM_198239.1:c.894del | NP_937882.1:p.Phe298LeufsTer? | |
| NR_125353.1:n.1094del | ||
| NR_125354.1:n.1014del | ||
| XM_011536220.1:c.840del | XP_011534522.1:p.Phe280LeufsTer? | |
| XM_011536221.1:c.*244del | XP_011534523.1:n.*244del | |
| XM_011536223.1:c.258del | XP_011534525.1:p.Phe86LeufsTer? | |
| XM_011536223.3:c.258del | XP_011534525.1:p.Phe86LeufsTer? | |
| XR_001743705.1:n.1442del | ||
| NM_003880.4:c.840del | NP_003871.1:p.Phe280LeufsTer? | |
| NM_198239.2:c.840del MANE Select | NP_937882.2:p.Phe280LeufsTer? | |
| NR_125353.2:n.1158del | ||
| NR_125354.3:n.985del |