ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.102218915del , CM000670.2:g.102218915del | GRCh38 |
| NC_000008.10:g.103231143del , CM000670.1:g.103231143del | GRCh37 |
| NC_000008.9:g.103300319del | NCBI36 |
| NG_016617.1:g.25205del , LRG_788:g.25205del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251810.8:c.584del MANE Select | ENSP00000251810.3:p.Gly195GlufsTer14 | |
| ENST00000251810.7:c.584del | ENSP00000251810.3:p.Gly195GlufsTer14 | |
| ENST00000395912.6:c.428del | ENSP00000379248.2:p.Gly143GlufsTer14 | |
| ENST00000519125.1:n.102del | ||
| ENST00000519317.5:c.49-4756del | ENSP00000430641.1:n.49-4756del | |
| ENST00000519962.5:c.49-10629del | ENSP00000429140.1:n.49-10629del | |
| ENST00000522368.5:c.753del | ||
| ENST00000522394.1:c.123-6025del | ENSP00000429578.1:n.123-6025del | |
| ENST00000621845.1:c.422del | ENSP00000484318.1:p.Gly141GlufsTer14 | |
| NM_001172477.1:c.800del , LRG_788t1:c.800del | NP_001165948.1:p.Gly267GlufsTer14 | |
| NM_001172478.1:c.428del | NP_001165949.1:p.Gly143GlufsTer14 | |
| NM_015713.4:c.584del , LRG_788t2:c.584del | NP_056528.2:p.Gly195GlufsTer14 | |
| NM_001172478.2:c.428del | NP_001165949.1:p.Gly143GlufsTer14 | |
| NM_015713.5:c.584del MANE Select | NP_056528.2:p.Gly195GlufsTer14 |