Linked Data
ClinVar Variation Id:
371416
ClinVar RCV Id:
RCV000410507
dbSNP Id:
rs1057517254
gnomAD v4:
21-44292389-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44292390del , CM000683.2:g.44292390del | GRCh38 |
| NC_000021.8:g.45712273del , CM000683.1:g.45712273del | GRCh37 |
| NC_000021.7:g.44536701del | NCBI36 |
| NG_009556.1:g.11511del , LRG_18:g.11511del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000291582.6:c.1084del MANE Select | ENSP00000291582.5:p.Val362TrpfsTer16 | |
| ENST00000291582.5:c.1084del | ENSP00000291582.5:p.Val362TrpfsTer16 | |
| ENST00000337909.5:n.545del | ||
| ENST00000397994.8:n.545del | ||
| ENST00000527919.5:n.1814del | ||
| ENST00000530812.5:n.2831del | ||
| NM_000383.3:c.1084del | NP_000374.1:p.Val362TrpfsTer16 | |
| XM_011529551.1:c.1081del | XP_011527853.1:p.Val361TrpfsTer16 | |
| NM_000383.4:c.1084del MANE Select | NP_000374.1:p.Val362TrpfsTer16 |