Linked Data
ClinVar Variation Id:
252325
dbSNP Id:
rs879255201
PubMed:
PMID:10735632
ERepo:
CA10585855/MONDO:0007750/013
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11129530_11129547dup , CM000681.2:g.11129530_11129547dup | GRCh38 |
| NC_000019.9:g.11240206_11240223dup , CM000681.1:g.11240206_11240223dup | GRCh37 |
| NC_000019.8:g.11101206_11101223dup | NCBI36 |
| NG_009060.1:g.45150_45167dup , LRG_274:g.45150_45167dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2665_2682dup | ENSP00000252444.6:p.Leu894_Leu895insCysLeuGlyValPheLeu | |
| ENST00000559340.2:c.*476_*493dup | ENSP00000453696.2:n.*476_*493dup | |
| ENST00000560467.2:c.2287_2304dup | ENSP00000453513.2:p.Leu768_Leu769insCysLeuGlyValPheLeu | |
| ENST00000558518.6:c.2407_2424dup MANE Select | ENSP00000454071.1:p.Leu808_Leu809insCysLeuGlyValPheLeu | |
| ENST00000252444.9:c.2661_2678dup | ||
| ENST00000455727.6:c.1903_1920dup | ENSP00000397829.2:p.Leu640_Leu641insCysLeuGlyValPheLeu | |
| ENST00000535915.5:c.2284_2301dup | ENSP00000440520.1:p.Leu767_Leu768insCysLeuGlyValPheLeu | |
| ENST00000545707.5:c.1873_1890dup | ENSP00000437639.1:p.Leu630_Leu631insCysLeuGlyValPheLeu | |
| ENST00000557933.5:c.2469_2486dup | ENSP00000453557.1:p.Phe829_Tyr830insAlaTrpGlySerSerPhe | |
| ENST00000558013.5:c.2407_2424dup | ENSP00000453346.1:p.Leu808_Leu809insCysLeuGlyValPheLeu | |
| ENST00000558518.5:c.2407_2424dup | ENSP00000454071.1:p.Leu808_Leu809insCysLeuGlyValPheLeu | |
| ENST00000560628.1:n.108+1876_108+1893dup | ||
| NM_000527.4:c.2407_2424dup , LRG_274t1:c.2407_2424dup | NP_000518.1:p.Leu808_Leu809insCysLeuGlyValPheLeu | |
| NM_001195798.1:c.2407_2424dup | NP_001182727.1:p.Leu808_Leu809insCysLeuGlyValPheLeu | |
| NM_001195799.1:c.2284_2301dup | NP_001182728.1:p.Leu767_Leu768insCysLeuGlyValPheLeu | |
| NM_001195800.1:c.1903_1920dup | NP_001182729.1:p.Leu640_Leu641insCysLeuGlyValPheLeu | |
| NM_001195803.1:c.1873_1890dup | NP_001182732.1:p.Leu630_Leu631insCysLeuGlyValPheLeu | |
| XM_011528010.1:c.2329_2346dup | XP_011526312.1:p.Leu782_Leu783insCysLeuGlyValPheLeu | |
| XM_011528011.1:c.2026_2043dup | XP_011526313.1:p.Leu681_Leu682insCysLeuGlyValPheLeu | |
| XR_244074.2:n.2417_2434dup | ||
| XM_011528010.2:c.2329_2346dup | XP_011526312.1:p.Leu782_Leu783insCysLeuGlyValPheLeu | |
| XR_001753685.2:n.2741_2758dup | ||
| XR_001753686.2:n.2384_2401dup | ||
| NM_000527.5:c.2407_2424dup MANE Select | NP_000518.1:p.Leu808_Leu809insCysLeuGlyValPheLeu | |
| NM_001195798.2:c.2407_2424dup | NP_001182727.1:p.Leu808_Leu809insCysLeuGlyValPheLeu | |
| NM_001195799.2:c.2284_2301dup | NP_001182728.1:p.Leu767_Leu768insCysLeuGlyValPheLeu | |
| NM_001195800.2:c.1903_1920dup | NP_001182729.1:p.Leu640_Leu641insCysLeuGlyValPheLeu | |
| NM_001195803.2:c.1873_1890dup | NP_001182732.1:p.Leu630_Leu631insCysLeuGlyValPheLeu |