Linked Data
ClinVar Variation Id:
422927
ClinVar RCV Id:
RCV000479943
dbSNP Id:
rs1064796100
gnomAD v4:
20-32435187-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32435189del , CM000682.2:g.32435189del | GRCh38 |
| NC_000020.10:g.31022992del , CM000682.1:g.31022992del | GRCh37 |
| NC_000020.9:g.30486653del | NCBI36 |
| NG_027868.1:g.81846del , LRG_630:g.81846del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375687.10:c.2477del MANE Select | ENSP00000364839.4:p.Gly826GlufsTer12 | |
| ENST00000646985.1:c.2294del | ENSP00000495053.1:p.Gly765GlufsTer12 | |
| ENST00000647223.1:n.4830del | ||
| ENST00000651418.1:c.1869+608del | ENSP00000499150.1:n.1869+608del | |
| ENST00000306058.9:c.2462del | ENSP00000305119.5:p.Gly821GlufsTer12 | |
| ENST00000375687.8:c.2477del | ENSP00000364839.4:p.Gly826GlufsTer12 | |
| ENST00000613218.4:c.2477del | ENSP00000480487.1:p.Gly826GlufsTer12 | |
| ENST00000620121.4:c.2477del | ENSP00000481978.1:p.Gly826GlufsTer12 | |
| NM_015338.5:c.2477del , LRG_630t1:c.2477del | NP_056153.2:p.Gly826GlufsTer12 | |
| XM_006723727.2:c.2474del | XP_006723790.1:p.Gly825GlufsTer12 | |
| XM_006723728.2:c.2447del | XP_006723791.1:p.Gly816GlufsTer12 | |
| XM_006723730.2:c.2393del | XP_006723793.1:p.Gly798GlufsTer12 | |
| XM_006723732.2:c.2294del | XP_006723795.1:p.Gly765GlufsTer12 | |
| XM_006723733.1:c.1793del | XP_006723796.1:p.Gly598GlufsTer12 | |
| XM_011528647.1:c.2741del | XP_011526949.1:p.Gly914GlufsTer12 | |
| XM_011528648.1:c.2738del | XP_011526950.1:p.Gly913GlufsTer12 | |
| XM_011528649.1:c.2657del | XP_011526951.1:p.Gly886GlufsTer12 | |
| XM_011528650.1:c.2588del | XP_011526952.1:p.Gly863GlufsTer12 | |
| XM_011528651.1:c.2456del | XP_011526953.1:p.Gly819GlufsTer12 | |
| XM_011528652.1:c.2393del | XP_011526954.1:p.Gly798GlufsTer12 | |
| NM_001363734.1:c.2294del | NP_001350663.1:p.Gly765GlufsTer12 | |
| XM_006723727.3:c.2474del | XP_006723790.1:p.Gly825GlufsTer12 | |
| XM_006723728.3:c.2447del | XP_006723791.1:p.Gly816GlufsTer12 | |
| XM_006723730.4:c.2393del | XP_006723793.1:p.Gly798GlufsTer12 | |
| XM_011528648.3:c.2738del | XP_011526950.1:p.Gly913GlufsTer12 | |
| XM_011528652.2:c.2393del | XP_011526954.1:p.Gly798GlufsTer12 | |
| XM_017027704.1:c.2393del | XP_016883193.1:p.Gly798GlufsTer12 | |
| XM_017027705.1:c.2393del | XP_016883194.1:p.Gly798GlufsTer12 | |
| XM_017027706.1:c.2324del | XP_016883195.1:p.Gly775GlufsTer12 | |
| NM_015338.6:c.2477del MANE Select | NP_056153.2:p.Gly826GlufsTer12 |