Linked Data
ClinVar Variation Id:
21305
ClinVar RCV Id:
RCV000020468
dbSNP Id:
rs80356675
gnomAD v4:
1-156876426-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156876427del , CM000663.2:g.156876427del | GRCh38 |
| NC_000001.10:g.156846219del , CM000663.1:g.156846219del | GRCh37 |
| NC_000001.9:g.155112843del | NCBI36 |
| NG_007493.1:g.65678del , LRG_261:g.65678del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000674537.2:c.1480del | ENSP00000502725.1:p.Arg494GlyfsTer? | |
| ENST00000392302.7:c.1480del | ENSP00000376120.3:p.Arg494GlyfsTer? | |
| ENST00000497019.7:c.*252del | ENSP00000436804.2:n.*252del | |
| ENST00000524377.7:c.1660del MANE Select | ENSP00000431418.1:p.Arg554GlyfsTer? | |
| ENST00000674537.1:c.1480del | ENSP00000502725.1:p.Arg494GlyfsTer? | |
| ENST00000358660.3:c.1651del | ENSP00000351486.3:p.Arg551GlyfsTer? | |
| ENST00000368196.7:c.1642del | ENSP00000357179.3:p.Arg548GlyfsTer? | |
| ENST00000392302.6:c.1552del | ENSP00000376120.2:p.Arg518GlyfsTer? | |
| ENST00000497019.6:c.*252del | ENSP00000436804.1:n.*252del | |
| ENST00000524377.5:c.1660del | ENSP00000431418.1:p.Arg554GlyfsTer? | |
| ENST00000530298.5:n.2113del | ||
| NM_001007792.1:c.1552del , LRG_261t1:c.1552del | NP_001007793.1:p.Arg518GlyfsTer? | |
| NM_001012331.1:c.1642del , LRG_261t2:c.1642del | NP_001012331.1:p.Arg548GlyfsTer? | |
| NM_002529.3:c.1660del , LRG_261t3:c.1660del | NP_002520.2:p.Arg554GlyfsTer? | |
| NM_001012331.2:c.1642del | NP_001012331.1:p.Arg548GlyfsTer? | |
| NM_002529.4:c.1660del MANE Select | NP_002520.2:p.Arg554GlyfsTer? |