Linked Data
ClinVar Variation Id:
252326
ClinVar RCV Id:
RCV000237854
dbSNP Id:
rs879255202
PubMed:
PMID:11810272
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11129531_11129532dup , CM000681.2:g.11129531_11129532dup | GRCh38 |
| NC_000019.9:g.11240207_11240208dup , CM000681.1:g.11240207_11240208dup | GRCh37 |
| NC_000019.8:g.11101207_11101208dup | NCBI36 |
| NG_009060.1:g.45151_45152dup , LRG_274:g.45151_45152dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2666_2667dup | ENSP00000252444.6:p.Leu890AlafsTer? | |
| ENST00000559340.2:c.*477_*478dup | ENSP00000453696.2:n.*477_*478dup | |
| ENST00000560467.2:c.2288_2289dup | ENSP00000453513.2:p.Leu764AlafsTer? | |
| ENST00000558518.6:c.2408_2409dup MANE Select | ENSP00000454071.1:p.Leu804AlafsTer? | |
| ENST00000252444.9:c.2662_2663dup | ||
| ENST00000455727.6:c.1904_1905dup | ENSP00000397829.2:p.Leu636AlafsTer? | |
| ENST00000535915.5:c.2285_2286dup | ENSP00000440520.1:p.Leu763AlafsTer? | |
| ENST00000545707.5:c.1874_1875dup | ENSP00000437639.1:p.Leu626AlafsTer? | |
| ENST00000557933.5:c.2470_2471dup | ENSP00000453557.1:p.Trp825ProfsTer13 | |
| ENST00000558013.5:c.2408_2409dup | ENSP00000453346.1:p.Leu804AlafsTer? | |
| ENST00000558518.5:c.2408_2409dup | ENSP00000454071.1:p.Leu804AlafsTer? | |
| ENST00000560628.1:n.108+1877_108+1878dup | ||
| NM_000527.4:c.2408_2409dup , LRG_274t1:c.2408_2409dup | NP_000518.1:p.Leu804AlafsTer? | |
| NM_001195798.1:c.2408_2409dup | NP_001182727.1:p.Leu804AlafsTer? | |
| NM_001195799.1:c.2285_2286dup | NP_001182728.1:p.Leu763AlafsTer? | |
| NM_001195800.1:c.1904_1905dup | NP_001182729.1:p.Leu636AlafsTer? | |
| NM_001195803.1:c.1874_1875dup | NP_001182732.1:p.Leu626AlafsTer? | |
| XM_011528010.1:c.2330_2331dup | XP_011526312.1:p.Leu778AlafsTer? | |
| XM_011528011.1:c.2027_2028dup | XP_011526313.1:p.Leu677AlafsTer? | |
| XR_244074.2:n.2418_2419dup | ||
| XM_011528010.2:c.2330_2331dup | XP_011526312.1:p.Leu778AlafsTer? | |
| XR_001753685.2:n.2742_2743dup | ||
| XR_001753686.2:n.2385_2386dup | ||
| NM_000527.5:c.2408_2409dup MANE Select | NP_000518.1:p.Leu804AlafsTer? | |
| NM_001195798.2:c.2408_2409dup | NP_001182727.1:p.Leu804AlafsTer? | |
| NM_001195799.2:c.2285_2286dup | NP_001182728.1:p.Leu763AlafsTer? | |
| NM_001195800.2:c.1904_1905dup | NP_001182729.1:p.Leu636AlafsTer? | |
| NM_001195803.2:c.1874_1875dup | NP_001182732.1:p.Leu626AlafsTer? |