Linked Data
ClinVar Variation Id:
406374
ClinVar RCV Id:
RCV003235220
dbSNP Id:
rs1060501100
ERepo:
CA16614686/MONDO:0007947/022
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48534139_48534145del , CM000677.2:g.48534139_48534145del | GRCh38 |
| NC_000015.9:g.48826336_48826342del , CM000677.1:g.48826336_48826342del | GRCh37 |
| NC_000015.8:g.46613628_46613634del | NCBI36 |
| NG_008805.2:g.116646_116652del , LRG_778:g.116646_116652del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000559133.6:c.799_805del | ENSP00000453958.2:p.Gly267LeufsTer? | |
| ENST00000674301.2:c.799_805del | ENSP00000501333.2:p.Gly267LeufsTer? | |
| ENST00000316623.10:c.799_805del MANE Select | ENSP00000325527.5:p.Gly267LeufsTer? | |
| ENST00000316623.9:c.799_805del | ENSP00000325527.5:p.Gly267LeufsTer? | |
| ENST00000537463.6:c.636+3568_636+3574del | ENSP00000440294.2:n.636+3568_636+3574del | |
| NM_000138.4:c.799_805del , LRG_778t1:c.799_805del | NP_000129.3:p.Gly267LeufsTer? | |
| NM_000138.5:c.799_805del MANE Select | NP_000129.3:p.Gly267LeufsTer? |