Linked Data
ClinVar Variation Id:
370816
ClinVar RCV Id:
RCV003766128
dbSNP Id:
rs1057516790
gnomAD v4:
1-150806757-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150806758del , CM000663.2:g.150806758del | GRCh38 |
| NC_000001.10:g.150779234del , CM000663.1:g.150779234del | GRCh37 |
| NC_000001.9:g.149045858del | NCBI36 |
| NG_011848.1:g.6579del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000271651.8:c.48del MANE Select | ENSP00000271651.3:p.Tyr17ThrfsTer? | |
| ENST00000443913.2:c.225del | ENSP00000405083.2:p.Tyr76ThrfsTer? | |
| ENST00000480670.2:n.2656del | ||
| ENST00000676680.1:c.48del | ENSP00000503270.1:p.Tyr17ThrfsTer? | |
| ENST00000676716.1:c.48del | ENSP00000504737.1:p.Tyr17ThrfsTer? | |
| ENST00000676751.1:c.48del | ENSP00000502964.1:p.Tyr17ThrfsTer? | |
| ENST00000676824.1:c.48del | ENSP00000504176.1:p.Tyr17ThrfsTer? | |
| ENST00000676966.1:c.48del | ENSP00000503723.1:p.Tyr17ThrfsTer? | |
| ENST00000676970.1:c.48del | ENSP00000503832.1:p.Tyr17ThrfsTer? | |
| ENST00000677330.1:n.1413del | ||
| ENST00000677887.1:c.90del | ENSP00000503876.1:p.Tyr31ThrfsTer? | |
| ENST00000678275.1:c.48del | ENSP00000504796.1:p.Tyr17ThrfsTer? | |
| ENST00000678337.1:c.84del | ENSP00000504759.1:p.Tyr29ThrfsTer? | |
| ENST00000678725.1:n.1025del | ||
| ENST00000679090.1:n.172del | ||
| ENST00000679148.1:n.928del | ||
| ENST00000679171.1:n.1948del | ||
| ENST00000679260.1:c.48del | ENSP00000504534.1:p.Tyr17ThrfsTer? | |
| ENST00000271651.7:c.48del | ENSP00000271651.3:p.Tyr17ThrfsTer? | |
| ENST00000443913.1:c.225del | ENSP00000405083.1:p.Tyr76ThrfsTer? | |
| ENST00000480670.1:n.11del | ||
| NM_000396.3:c.48del | NP_000387.1:p.Tyr17ThrfsTer? | |
| NM_000396.4:c.48del MANE Select | NP_000387.1:p.Tyr17ThrfsTer? |