Linked Data
ClinVar Variation Id:
251495
ClinVar RCV Id:
RCV000237456
dbSNP Id:
rs879254700
PubMed:
PMID:15241806
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11107448del , CM000681.2:g.11107448del | GRCh38 |
| NC_000019.9:g.11218124del , CM000681.1:g.11218124del | GRCh37 |
| NC_000019.8:g.11079124del | NCBI36 |
| NG_009060.1:g.23068del , LRG_274:g.23068del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252444.10:c.1132del | ENSP00000252444.6:p.Leu378TrpfsTer? | |
| ENST00000559340.2:c.874del | ENSP00000453696.2:p.Leu292TrpfsTer? | |
| ENST00000560467.2:c.874del | ENSP00000453513.2:p.Leu292TrpfsTer? | |
| ENST00000558518.6:c.874del MANE Select | ENSP00000454071.1:p.Leu292TrpfsTer? | |
| ENST00000252444.9:c.1128del | ||
| ENST00000455727.6:c.370del | ENSP00000397829.2:p.Leu124TrpfsTer? | |
| ENST00000535915.5:c.751del | ENSP00000440520.1:p.Leu251TrpfsTer? | |
| ENST00000545707.5:c.493del | ENSP00000437639.1:p.Leu165TrpfsTer? | |
| ENST00000557933.5:c.874del | ENSP00000453557.1:p.Leu292TrpfsTer? | |
| ENST00000558013.5:c.874del | ENSP00000453346.1:p.Leu292TrpfsTer? | |
| ENST00000558518.5:c.874del | ENSP00000454071.1:p.Leu292TrpfsTer? | |
| ENST00000558528.1:n.389del | ||
| ENST00000560467.1:c.474del | ||
| NM_000527.4:c.874del , LRG_274t1:c.874del | NP_000518.1:p.Leu292TrpfsTer? | |
| NM_001195798.1:c.874del | NP_001182727.1:p.Leu292TrpfsTer? | |
| NM_001195799.1:c.751del | NP_001182728.1:p.Leu251TrpfsTer? | |
| NM_001195800.1:c.370del | NP_001182729.1:p.Leu124TrpfsTer? | |
| NM_001195803.1:c.493del | NP_001182732.1:p.Leu165TrpfsTer? | |
| XM_011528010.1:c.874del | XP_011526312.1:p.Leu292TrpfsTer? | |
| XM_011528011.1:c.493del | XP_011526313.1:p.Leu165TrpfsTer? | |
| XR_244074.2:n.1024del | ||
| XM_011528010.2:c.874del | XP_011526312.1:p.Leu292TrpfsTer? | |
| XR_001753685.2:n.991del | ||
| XR_001753686.2:n.991del | ||
| NM_000527.5:c.874del MANE Select | NP_000518.1:p.Leu292TrpfsTer? | |
| NM_001195798.2:c.874del | NP_001182727.1:p.Leu292TrpfsTer? | |
| NM_001195799.2:c.751del | NP_001182728.1:p.Leu251TrpfsTer? | |
| NM_001195800.2:c.370del | NP_001182729.1:p.Leu124TrpfsTer? | |
| NM_001195803.2:c.493del | NP_001182732.1:p.Leu165TrpfsTer? |