Linked Data
ClinVar Variation Id:
183294
dbSNP Id:
rs730882209
MyVariant Identifiers:
chr9:g.135201763dupC (hg19)
chr9:g.135201762_135201763insC (hg19)
chr9:g.132326376dupC (hg38)
chr9:g.132326375_132326376insC (hg38)
PubMed:
PMID:25558065
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132326377dup , CM000671.2:g.132326377dup | GRCh38 |
| NC_000009.11:g.135201764dup , CM000671.1:g.135201764dup | GRCh37 |
| NC_000009.10:g.134191585dup | NCBI36 |
| NG_007946.1:g.33610dup , LRG_268:g.33610dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000224140.6:c.5222dup MANE Select | ENSP00000224140.5:p.Asp1742ArgfsTer4 | |
| ENST00000224140.5:c.5222dup | ENSP00000224140.5:p.Asp1742ArgfsTer4 | |
| NM_015046.5:c.5222dup , LRG_268t1:c.5222dup | NP_055861.3:p.Asp1742ArgfsTer4 | |
| XM_005272171.1:c.5222dup | XP_005272228.1:p.Asp1742ArgfsTer4 | |
| XM_005272172.1:c.5222dup | XP_005272229.1:p.Asp1742ArgfsTer4 | |
| XM_005272173.1:c.5222dup | XP_005272230.1:p.Asp1742ArgfsTer4 | |
| XM_011518404.1:c.5222dup | XP_011516706.1:p.Asp1742ArgfsTer4 | |
| XM_011518405.1:c.5222dup | XP_011516707.1:p.Asp1742ArgfsTer4 | |
| XM_011518406.1:c.5222dup | XP_011516708.1:p.Asp1742ArgfsTer4 | |
| XM_011518407.1:c.5222dup | XP_011516709.1:p.Asp1742ArgfsTer4 | |
| XM_011518408.1:c.5222dup | XP_011516710.1:p.Asp1742ArgfsTer4 | |
| XR_929739.1:n.5190+216dup | ||
| NM_001351527.1:c.5222dup | NP_001338456.1:p.Asp1742ArgfsTer4 | |
| NM_001351528.1:c.5222dup | NP_001338457.1:p.Asp1742ArgfsTer4 | |
| NM_015046.6:c.5222dup | NP_055861.3:p.Asp1742ArgfsTer4 | |
| XM_005272172.3:c.5222dup | XP_005272229.1:p.Asp1742ArgfsTer4 | |
| XM_005272173.3:c.5222dup | XP_005272230.1:p.Asp1742ArgfsTer4 | |
| XM_011518404.3:c.5222dup | XP_011516706.1:p.Asp1742ArgfsTer4 | |
| XM_011518405.3:c.5222dup | XP_011516707.1:p.Asp1742ArgfsTer4 | |
| XM_011518406.2:c.5222dup | XP_011516708.1:p.Asp1742ArgfsTer4 | |
| XM_011518408.3:c.5222dup | XP_011516710.1:p.Asp1742ArgfsTer4 | |
| XM_017014496.1:c.-274+577dup | XP_016869985.1:n.-274+577dup | |
| XR_001746251.1:n.4829+577dup | ||
| XR_929739.2:n.5190+216dup | ||
| NM_015046.7:c.5222dup MANE Select | NP_055861.3:p.Asp1742ArgfsTer4 | |
| NM_001351528.2:c.5222dup | NP_001338457.1:p.Asp1742ArgfsTer4 | |
| NM_001351527.2:c.5222dup | NP_001338456.1:p.Asp1742ArgfsTer4 |