Linked Data
ClinVar Variation Id:
372207
ClinVar RCV Id:
RCV000412553
dbSNP Id:
rs1057518746
PubMed:
PMID:27930337
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.17097901del , CM000684.2:g.17097901del | GRCh38 |
| NC_000022.10:g.17578791del , CM000684.1:g.17578791del | GRCh37 |
| NC_000022.9:g.15958791del | NCBI36 |
| NG_028257.1:g.17941del , LRG_355:g.17941del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000612619.2:c.268del | ENSP00000479970.1:p.Leu90CysfsTer30 | |
| ENST00000694948.1:n.366del | ||
| ENST00000694949.1:n.363del | ||
| ENST00000694950.1:c.289del | ||
| ENST00000694951.1:n.131del | ||
| ENST00000319363.11:c.268del MANE Select | ENSP00000320936.6:p.Leu90CysfsTer30 | |
| ENST00000319363.10:c.268del | ENSP00000320936.6:p.Leu90CysfsTer30 | |
| ENST00000477874.1:n.381del | ||
| ENST00000612619.1:c.268del | ENSP00000479970.1:p.Leu90CysfsTer30 | |
| NM_001289905.1:c.268del | NP_001276834.1:p.Leu90CysfsTer30 | |
| NM_014339.6:c.268del , LRG_355t1:c.268del | NP_055154.3:p.Leu90CysfsTer30 | |
| NM_014339.7:c.268del MANE Select | NP_055154.3:p.Leu90CysfsTer30 | |
| NM_001289905.2:c.268del | NP_001276834.1:p.Leu90CysfsTer30 |