Linked Data
ClinVar Variation Id:
251381
ClinVar RCV Id:
RCV000237165
dbSNP Id:
rs879254632
PubMed:
PMID:15241806
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11105581_11105595del , CM000681.2:g.11105581_11105595del | GRCh38 |
| NC_000019.9:g.11216257_11216271del , CM000681.1:g.11216257_11216271del | GRCh37 |
| NC_000019.8:g.11077257_11077271del | NCBI36 |
| NG_009060.1:g.21201_21215del , LRG_274:g.21201_21215del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.933_947del | ENSP00000252444.6:p.Lys311_Glu315del | |
| ENST00000559340.2:c.675_689del | ENSP00000453696.2:p.Lys225_Glu229del | |
| ENST00000560467.2:c.675_689del | ENSP00000453513.2:p.Lys225_Glu229del | |
| ENST00000558518.6:c.675_689del MANE Select | ENSP00000454071.1:p.Lys225_Glu229del | |
| ENST00000252444.9:c.929_943del | ||
| ENST00000455727.6:c.314-1811_314-1797del | ENSP00000397829.2:n.314-1811_314-1797del | |
| ENST00000535915.5:c.552_566del | ENSP00000440520.1:p.Lys184_Glu188del | |
| ENST00000545707.5:c.314-984_314-970del | ENSP00000437639.1:n.314-984_314-970del | |
| ENST00000557933.5:c.675_689del | ENSP00000453557.1:p.Lys225_Glu229del | |
| ENST00000558013.5:c.675_689del | ENSP00000453346.1:p.Lys225_Glu229del | |
| ENST00000558518.5:c.675_689del | ENSP00000454071.1:p.Lys225_Glu229del | |
| ENST00000560467.1:c.275_289del | ||
| NM_000527.4:c.675_689del , LRG_274t1:c.675_689del | NP_000518.1:p.Lys225_Glu229del | |
| NM_001195798.1:c.675_689del | NP_001182727.1:p.Lys225_Glu229del | |
| NM_001195799.1:c.552_566del | NP_001182728.1:p.Lys184_Glu188del | |
| NM_001195800.1:c.314-1811_314-1797del | NP_001182729.1:n.314-1811_314-1797del | |
| NM_001195803.1:c.314-984_314-970del | NP_001182732.1:n.314-984_314-970del | |
| XM_011528010.1:c.675_689del | XP_011526312.1:p.Lys225_Glu229del | |
| XM_011528011.1:c.314-984_314-970del | XP_011526313.1:n.314-984_314-970del | |
| XR_244074.2:n.825_839del | ||
| XM_011528010.2:c.675_689del | XP_011526312.1:p.Lys225_Glu229del | |
| XR_001753685.2:n.792_806del | ||
| XR_001753686.2:n.792_806del | ||
| NM_000527.5:c.675_689del MANE Select | NP_000518.1:p.Lys225_Glu229del | |
| NM_001195798.2:c.675_689del | NP_001182727.1:p.Lys225_Glu229del | |
| NM_001195799.2:c.552_566del | NP_001182728.1:p.Lys184_Glu188del | |
| NM_001195800.2:c.314-1811_314-1797del | NP_001182729.1:n.314-1811_314-1797del | |
| NM_001195803.2:c.314-984_314-970del | NP_001182732.1:n.314-984_314-970del |