Linked Data
ClinVar Variation Id:
945811
ClinVar RCV Id:
RCV001216538
dbSNP Id:
rs2039407382
gnomAD v4:
19-41424578-GCACTACC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41424583_41424589del , CM000681.2:g.41424583_41424589del | GRCh38 |
| NC_000019.9:g.41930488_41930494del , CM000681.1:g.41930488_41930494del | GRCh37 |
| NC_000019.8:g.46622328_46622334del | NCBI36 |
| NG_013004.1:g.31795_31801del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.1313_1319del MANE Select | ENSP00000269980.2:p.Tyr438TrpfsTer? | |
| ENST00000269980.6:c.1313_1319del | ENSP00000269980.2:p.Tyr438TrpfsTer? | |
| ENST00000457836.6:c.1322_1328del | ENSP00000416000.2:p.Tyr441TrpfsTer? | |
| ENST00000540732.3:c.1415_1421del | ENSP00000443246.1:p.Tyr472TrpfsTer? | |
| ENST00000544905.1:c.143_149del | ||
| ENST00000595085.5:c.922+1886_922+1892del | ENSP00000471150.2:n.922+1886_922+1892del | |
| NM_000709.3:c.1313_1319del | NP_000700.1:p.Tyr438TrpfsTer? | |
| NM_001164783.1:c.1310_1316del | NP_001158255.1:p.Tyr437TrpfsTer? | |
| NM_000709.4:c.1313_1319del MANE Select | NP_000700.1:p.Tyr438TrpfsTer? | |
| NM_001164783.2:c.1310_1316del | NP_001158255.1:p.Tyr437TrpfsTer? |