Linked Data
ClinVar Variation Id:
100766
ClinVar RCV Id:
RCV000087130
dbSNP Id:
rs587777149
gnomAD v4:
11-33717392-AT-A
PubMed:
PMID:24382084
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.33717393del , CM000673.2:g.33717393del | GRCh38 |
| NC_000011.9:g.33738939del , CM000673.1:g.33738939del | GRCh37 |
| NC_000011.8:g.33695515del | NCBI36 |
| NG_008057.1:g.24086del , LRG_41:g.24086del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000706436.1:c.139del | ENSP00000516379.1:p.Met47CysfsTer13 | |
| ENST00000351554.8:c.146del | ENSP00000340210.3:p.Asp49ValfsTer? | |
| ENST00000395850.9:c.146del | ENSP00000379191.3:p.Asp49ValfsTer? | |
| ENST00000415002.7:c.146del | ENSP00000404822.2:p.Asp49ValfsTer? | |
| ENST00000426650.7:c.146del | ENSP00000402425.3:p.Asp49ValfsTer27 | |
| ENST00000528700.2:c.146del | ENSP00000434617.2:p.Asp49ValfsTer? | |
| ENST00000533403.6:c.146del | ENSP00000436737.1:p.Asp49ValfsTer29 | |
| ENST00000642928.2:c.146del MANE Select | ENSP00000494884.1:p.Asp49ValfsTer? | |
| ENST00000643183.1:c.146del | ENSP00000495784.1:p.Asp49ValfsTer29 | |
| ENST00000651485.1:c.45del | ||
| ENST00000651785.1:c.146del | ENSP00000498879.1:p.Asp49ValfsTer? | |
| ENST00000652086.1:c.146del | ENSP00000498387.1:p.Asp49ValfsTer27 | |
| ENST00000652678.1:c.146del | ENSP00000498448.1:p.Asp49ValfsTer? | |
| ENST00000351554.7:c.146del | ENSP00000340210.3:p.Asp49ValfsTer? | |
| ENST00000395850.7:c.146del | ENSP00000379191.3:p.Asp49ValfsTer? | |
| ENST00000415002.6:c.146del | ENSP00000404822.2:p.Asp49ValfsTer? | |
| ENST00000426650.6:c.146del | ENSP00000402425.2:p.Asp49ValfsTer? | |
| ENST00000437761.6:c.146del | ENSP00000410182.2:p.Asp49ValfsTer? | |
| ENST00000445143.6:c.146del | ENSP00000403511.2:p.Asp49ValfsTer? | |
| ENST00000525763.5:c.146del | ENSP00000435179.1:p.Asp49ValfsTer? | |
| ENST00000527577.5:c.146del | ENSP00000432942.1:p.Asp49ValfsTer? | |
| ENST00000527926.5:c.146del | ENSP00000437122.1:p.Asp49ValfsTer? | |
| ENST00000528700.1:c.146del | ENSP00000434617.1:p.Asp49ValfsTer? | |
| ENST00000528987.1:n.2219del | ||
| ENST00000533403.5:c.146del | ENSP00000436737.1:p.Asp49ValfsTer29 | |
| ENST00000534312.5:c.146del | ENSP00000432362.1:p.Asp49ValfsTer? | |
| NM_000611.5:c.146del | NP_000602.1:p.Asp49ValfsTer? | |
| NM_001127223.1:c.146del | NP_001120695.1:p.Asp49ValfsTer? | |
| NM_001127225.1:c.146del | NP_001120697.1:p.Asp49ValfsTer? | |
| NM_001127226.1:c.146del | NP_001120698.1:p.Asp49ValfsTer? | |
| NM_001127227.1:c.146del | NP_001120699.1:p.Asp49ValfsTer? | |
| NM_203329.2:c.146del | NP_976074.1:p.Asp49ValfsTer? | |
| NM_203330.2:c.146del , LRG_41t1:c.146del | NP_976075.1:p.Asp49ValfsTer? | |
| NM_203331.2:c.146del | NP_976076.1:p.Asp49ValfsTer? | |
| NM_000611.6:c.146del MANE Select | NP_000602.1:p.Asp49ValfsTer? | |
| NM_001127225.2:c.146del | NP_001120697.1:p.Asp49ValfsTer? | |
| NM_001127226.2:c.146del | NP_001120698.1:p.Asp49ValfsTer? | |
| NM_001127227.2:c.146del | NP_001120699.1:p.Asp49ValfsTer? | |
| NM_203329.3:c.146del | NP_976074.1:p.Asp49ValfsTer? | |
| NM_203331.3:c.146del | NP_976076.1:p.Asp49ValfsTer? |