Linked Data
ClinVar Variation Id:
252169
ClinVar RCV Id:
RCV000237623
dbSNP Id:
rs879255110
PubMed:
PMID:20809525
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11120395_11120396del , CM000681.2:g.11120395_11120396del | GRCh38 |
| NC_000019.9:g.11231071_11231072del , CM000681.1:g.11231071_11231072del | GRCh37 |
| NC_000019.8:g.11092071_11092072del | NCBI36 |
| NG_009060.1:g.36015_36016del , LRG_274:g.36015_36016del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2271_2272del | ENSP00000252444.6:p.Leu758GlufsTer? | |
| ENST00000559340.2:c.*82_*83del | ENSP00000453696.2:n.*82_*83del | |
| ENST00000560467.2:c.1893_1894del | ENSP00000453513.2:p.Leu632GlufsTer? | |
| ENST00000558518.6:c.2013_2014del MANE Select | ENSP00000454071.1:p.Leu672GlufsTer? | |
| ENST00000252444.9:c.2267_2268del | ||
| ENST00000455727.6:c.1509_1510del | ENSP00000397829.2:p.Leu504GlufsTer? | |
| ENST00000535915.5:c.1890_1891del | ENSP00000440520.1:p.Leu631GlufsTer? | |
| ENST00000545707.5:c.1606+162_1606+163del | ENSP00000437639.1:n.1606+162_1606+163del | |
| ENST00000557933.5:c.2013_2014del | ENSP00000453557.1:p.Leu672GlufsTer? | |
| ENST00000558013.5:c.2013_2014del | ENSP00000453346.1:p.Leu672GlufsTer? | |
| ENST00000558518.5:c.2013_2014del | ENSP00000454071.1:p.Leu672GlufsTer? | |
| ENST00000559340.1:c.594_595del | ||
| NM_000527.4:c.2013_2014del , LRG_274t1:c.2013_2014del | NP_000518.1:p.Leu672GlufsTer? | |
| NM_001195798.1:c.2013_2014del | NP_001182727.1:p.Leu672GlufsTer? | |
| NM_001195799.1:c.1890_1891del | NP_001182728.1:p.Leu631GlufsTer? | |
| NM_001195800.1:c.1509_1510del | NP_001182729.1:p.Leu504GlufsTer? | |
| NM_001195803.1:c.1606+162_1606+163del | NP_001182732.1:n.1606+162_1606+163del | |
| XM_011528010.1:c.2013_2014del | XP_011526312.1:p.Leu672GlufsTer? | |
| XM_011528011.1:c.1632_1633del | XP_011526313.1:p.Leu545GlufsTer? | |
| XR_244074.2:n.2023_2024del | ||
| XM_011528010.2:c.2013_2014del | XP_011526312.1:p.Leu672GlufsTer? | |
| XR_001753685.2:n.2130_2131del | ||
| XR_001753686.2:n.1990_1991del | ||
| NM_000527.5:c.2013_2014del MANE Select | NP_000518.1:p.Leu672GlufsTer? | |
| NM_001195798.2:c.2013_2014del | NP_001182727.1:p.Leu672GlufsTer? | |
| NM_001195799.2:c.1890_1891del | NP_001182728.1:p.Leu631GlufsTer? | |
| NM_001195800.2:c.1509_1510del | NP_001182729.1:p.Leu504GlufsTer? | |
| NM_001195803.2:c.1606+162_1606+163del | NP_001182732.1:n.1606+162_1606+163del |