Linked Data
ClinVar Variation Id:
419609
ClinVar RCV Id:
RCV000481700
dbSNP Id:
rs1064793988
gnomAD v3:
20-32435518-AC-A
gnomAD v4:
20-32435518-AC-A
MyVariant Identifiers:
chr20:g.31023325del (hg19)
chr20:g.31023322del (hg19)
chr20:g.32435522del (hg38)
chr20:g.32435519del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32435522del , CM000682.2:g.32435522del | GRCh38 |
| NC_000020.10:g.31023325del , CM000682.1:g.31023325del | GRCh37 |
| NC_000020.9:g.30486986del | NCBI36 |
| NG_027868.1:g.82179del , LRG_630:g.82179del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375687.10:c.2810del MANE Select | ENSP00000364839.4:p.Pro937LeufsTer8 | |
| ENST00000646985.1:c.2627del | ENSP00000495053.1:p.Pro876LeufsTer8 | |
| ENST00000647223.1:n.5163del | ||
| ENST00000651418.1:c.1869+941del | ENSP00000499150.1:n.1869+941del | |
| ENST00000306058.9:c.2795del | ENSP00000305119.5:p.Pro932LeufsTer8 | |
| ENST00000375687.8:c.2810del | ENSP00000364839.4:p.Pro937LeufsTer8 | |
| ENST00000613218.4:c.2810del | ENSP00000480487.1:p.Pro937LeufsTer8 | |
| ENST00000620121.4:c.2810del | ENSP00000481978.1:p.Pro937LeufsTer8 | |
| NM_015338.5:c.2810del , LRG_630t1:c.2810del | NP_056153.2:p.Pro937LeufsTer8 | |
| XM_006723727.2:c.2807del | XP_006723790.1:p.Pro936LeufsTer8 | |
| XM_006723728.2:c.2780del | XP_006723791.1:p.Pro927LeufsTer8 | |
| XM_006723730.2:c.2726del | XP_006723793.1:p.Pro909LeufsTer8 | |
| XM_006723732.2:c.2627del | XP_006723795.1:p.Pro876LeufsTer8 | |
| XM_006723733.1:c.2126del | XP_006723796.1:p.Pro709LeufsTer8 | |
| XM_011528647.1:c.3074del | XP_011526949.1:p.Pro1025LeufsTer8 | |
| XM_011528648.1:c.3071del | XP_011526950.1:p.Pro1024LeufsTer8 | |
| XM_011528649.1:c.2990del | XP_011526951.1:p.Pro997LeufsTer8 | |
| XM_011528650.1:c.2921del | XP_011526952.1:p.Pro974LeufsTer8 | |
| XM_011528651.1:c.2789del | XP_011526953.1:p.Pro930LeufsTer8 | |
| XM_011528652.1:c.2726del | XP_011526954.1:p.Pro909LeufsTer8 | |
| NM_001363734.1:c.2627del | NP_001350663.1:p.Pro876LeufsTer8 | |
| XM_006723727.3:c.2807del | XP_006723790.1:p.Pro936LeufsTer8 | |
| XM_006723728.3:c.2780del | XP_006723791.1:p.Pro927LeufsTer8 | |
| XM_006723730.4:c.2726del | XP_006723793.1:p.Pro909LeufsTer8 | |
| XM_011528648.3:c.3071del | XP_011526950.1:p.Pro1024LeufsTer8 | |
| XM_011528652.2:c.2726del | XP_011526954.1:p.Pro909LeufsTer8 | |
| XM_017027704.1:c.2726del | XP_016883193.1:p.Pro909LeufsTer8 | |
| XM_017027705.1:c.2726del | XP_016883194.1:p.Pro909LeufsTer8 | |
| XM_017027706.1:c.2657del | XP_016883195.1:p.Pro886LeufsTer8 | |
| NM_015338.6:c.2810del MANE Select | NP_056153.2:p.Pro937LeufsTer8 |