Linked Data
ClinVar Variation Id:
421748
ClinVar RCV Id:
RCV000479883
dbSNP Id:
rs1064795342
gnomAD v4:
19-49831393-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49831396del , CM000681.2:g.49831396del | GRCh38 |
| NC_000019.9:g.50334653del , CM000681.1:g.50334653del | GRCh37 |
| NC_000019.8:g.55026465del | NCBI36 |
| NG_017091.1:g.18118del , LRG_368:g.18118del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000593767.3:c.1165del | ENSP00000470692.3:p.Leu389SerfsTer? | |
| ENST00000312865.10:c.1165del MANE Select | ENSP00000326767.5:p.Leu389SerfsTer? | |
| ENST00000538643.5:c.526del | ENSP00000437496.1:p.Leu176SerfsTer? | |
| ENST00000595185.5:c.688+1448del | ENSP00000470027.1:n.688+1448del | |
| ENST00000599722.1:n.109del | ||
| ENST00000612791.4:c.761+1234del | ENSP00000479851.1:n.761+1234del | |
| ENST00000612854.4:c.450+2381del | ENSP00000482155.1:n.450+2381del | |
| ENST00000617849.4:c.370del | ENSP00000484882.1:p.Leu124SerfsTer? | |
| ENST00000618715.4:c.370del | ENSP00000480731.1:p.Leu124SerfsTer? | |
| ENST00000620467.4:c.972+638del | ENSP00000482659.1:n.972+638del | |
| ENST00000622402.4:c.146-4431del | ENSP00000478074.1:n.146-4431del | |
| NM_030973.3:c.1165del , LRG_368t1:c.1165del | NP_112235.2:p.Leu389SerfsTer? | |
| XM_011527353.1:c.1165del | XP_011525655.1:p.Leu389SerfsTer? | |
| NM_001378355.1:c.1165del | NP_001365284.1:p.Leu389SerfsTer? | |
| NM_030973.4:c.1165del MANE Select | NP_112235.2:p.Leu389SerfsTer? |