Linked Data
ClinVar Variation Id:
438769
ClinVar RCV Id:
RCV000505599
dbSNP Id:
rs1553893816
COSMIC:
COSM5702582
PubMed:
PMID:26822237
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54738477_54738478dup , CM000666.2:g.54738477_54738478dup | GRCh38 |
| NC_000004.11:g.55604643_55604644dup , CM000666.1:g.55604643_55604644dup | GRCh37 |
| NC_000004.10:g.55299400_55299401dup | NCBI36 |
| NG_007456.1:g.85483_85484dup , LRG_307:g.85483_85484dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412167.7:c.2839_2840dup | ENSP00000390987.3:p.Asp948Ter | |
| ENST00000684818.1:n.1543_1544dup | ||
| ENST00000685269.1:n.2929_2930dup | ||
| ENST00000686011.1:c.2836_2837dup | ENSP00000509704.1:p.Asp947Ter | |
| ENST00000687109.1:c.2854_2855dup | ENSP00000509371.1:p.Asp953Ter | |
| ENST00000687208.1:n.3263_3264dup | ||
| ENST00000687246.1:c.2716_2717dup | ENSP00000509114.1:p.Asp907Ter | |
| ENST00000687265.1:n.3009_3010dup | ||
| ENST00000687295.1:c.2839_2840dup | ENSP00000509450.1:p.Asp948Ter | |
| ENST00000688060.1:n.648_649dup | ||
| ENST00000689832.1:c.2851_2852dup | ENSP00000509084.1:p.Asp952Ter | |
| ENST00000689994.1:c.2341_2342dup | ENSP00000509156.1:p.Asp782Ter | |
| ENST00000690543.1:c.2842_2843dup | ENSP00000508831.1:p.Asp949Ter | |
| ENST00000690917.1:n.3069_3070dup | ||
| ENST00000691361.1:n.1761_1762dup | ||
| ENST00000692783.1:c.2848_2849dup | ENSP00000508733.1:p.Asp951Ter | |
| ENST00000692991.1:n.2948_2949dup | ||
| ENST00000288135.6:c.2851_2852dup MANE Select | ENSP00000288135.6:p.Asp952Ter | |
| ENST00000288135.5:c.2851_2852dup | ENSP00000288135.5:p.Asp952Ter | |
| ENST00000412167.6:c.2839_2840dup | ENSP00000390987.2:p.Asp948Ter | |
| NM_000222.2:c.2851_2852dup , LRG_307t1:c.2851_2852dup | NP_000213.1:p.Asp952Ter | |
| NM_001093772.1:c.2839_2840dup | NP_001087241.1:p.Asp948Ter | |
| XM_005265740.1:c.2854_2855dup | XP_005265797.1:p.Asp953Ter | |
| XM_005265741.1:c.2851_2852dup | XP_005265798.1:p.Asp952Ter | |
| XM_005265742.1:c.2842_2843dup | XP_005265799.1:p.Asp949Ter | |
| XM_005265742.3:c.2842_2843dup | XP_005265799.1:p.Asp949Ter | |
| XM_017008178.1:c.2848_2849dup | XP_016863667.1:p.Asp951Ter | |
| XM_017008179.1:c.2839_2840dup | XP_016863668.1:p.Asp948Ter | |
| XM_017008180.1:c.2836_2837dup | XP_016863669.1:p.Asp947Ter | |
| NM_000222.3:c.2851_2852dup MANE Select | NP_000213.1:p.Asp952Ter | |
| NM_001093772.2:c.2839_2840dup | NP_001087241.1:p.Asp948Ter | |
| NM_001385284.1:c.2854_2855dup | NP_001372213.1:p.Asp953Ter | |
| NM_001385285.1:c.2848_2849dup | NP_001372214.1:p.Asp951Ter | |
| NM_001385286.1:c.2836_2837dup | NP_001372215.1:p.Asp947Ter | |
| NM_001385288.1:c.2842_2843dup | NP_001372217.1:p.Asp949Ter | |
| NM_001385290.1:c.2851_2852dup | NP_001372219.1:p.Asp952Ter | |
| NM_001385292.1:c.2839_2840dup | NP_001372221.1:p.Asp948Ter |