Linked Data
ClinVar Variation Id:
252339
ClinVar RCV Id:
RCV000237118
dbSNP Id:
rs879255214
PubMed:
PMID:9259195
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11129581_11129589del , CM000681.2:g.11129581_11129589del | GRCh38 |
| NC_000019.9:g.11240257_11240265del , CM000681.1:g.11240257_11240265del | GRCh37 |
| NC_000019.8:g.11101257_11101265del | NCBI36 |
| NG_009060.1:g.45201_45209del , LRG_274:g.45201_45209del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2716_2724del | ENSP00000252444.6:p.Ser906_Asn908del | |
| ENST00000559340.2:c.*527_*535del | ENSP00000453696.2:n.*527_*535del | |
| ENST00000560467.2:c.2338_2346del | ENSP00000453513.2:p.Ser780_Asn782del | |
| ENST00000558518.6:c.2458_2466del MANE Select | ENSP00000454071.1:p.Ser820_Asn822del | |
| ENST00000252444.9:c.2712_2720del | ||
| ENST00000455727.6:c.1954_1962del | ENSP00000397829.2:p.Ser652_Asn654del | |
| ENST00000535915.5:c.2335_2343del | ENSP00000440520.1:p.Ser779_Asn781del | |
| ENST00000545707.5:c.1924_1932del | ENSP00000437639.1:p.Ser642_Asn644del | |
| ENST00000557933.5:c.2520_2528del | ENSP00000453557.1:p.Ala841_Thr843del | |
| ENST00000558013.5:c.2458_2466del | ENSP00000453346.1:p.Ser820_Asn822del | |
| ENST00000558518.5:c.2458_2466del | ENSP00000454071.1:p.Ser820_Asn822del | |
| ENST00000560628.1:n.108+1927_108+1935del | ||
| NM_000527.4:c.2458_2466del , LRG_274t1:c.2458_2466del | NP_000518.1:p.Ser820_Asn822del | |
| NM_001195798.1:c.2458_2466del | NP_001182727.1:p.Ser820_Asn822del | |
| NM_001195799.1:c.2335_2343del | NP_001182728.1:p.Ser779_Asn781del | |
| NM_001195800.1:c.1954_1962del | NP_001182729.1:p.Ser652_Asn654del | |
| NM_001195803.1:c.1924_1932del | NP_001182732.1:p.Ser642_Asn644del | |
| XM_011528010.1:c.2380_2388del | XP_011526312.1:p.Ser794_Asn796del | |
| XM_011528011.1:c.2077_2085del | XP_011526313.1:p.Ser693_Asn695del | |
| XM_011528010.2:c.2380_2388del | XP_011526312.1:p.Ser794_Asn796del | |
| XR_001753685.2:n.2792_2800del | ||
| XR_001753686.2:n.2435_2443del | ||
| NM_000527.5:c.2458_2466del MANE Select | NP_000518.1:p.Ser820_Asn822del | |
| NM_001195798.2:c.2458_2466del | NP_001182727.1:p.Ser820_Asn822del | |
| NM_001195799.2:c.2335_2343del | NP_001182728.1:p.Ser779_Asn781del | |
| NM_001195800.2:c.1954_1962del | NP_001182729.1:p.Ser652_Asn654del | |
| NM_001195803.2:c.1924_1932del | NP_001182732.1:p.Ser642_Asn644del |