Linked Data
ClinVar Variation Id:
2771714
ClinVar RCV Id:
RCV003582057
dbSNP Id:
rs2077409559
gnomAD v4:
19-11113363-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11113365del , CM000681.2:g.11113365del | GRCh38 |
| NC_000019.9:g.11224041del , CM000681.1:g.11224041del | GRCh37 |
| NC_000019.8:g.11085041del | NCBI36 |
| NG_009060.1:g.28985del , LRG_274:g.28985del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1532del | ENSP00000252444.6:p.Asn511ThrfsTer2 | |
| ENST00000559340.2:c.1274del | ENSP00000453696.2:p.Asn425ThrfsTer2 | |
| ENST00000560467.2:c.1154del | ENSP00000453513.2:p.Asn385ThrfsTer2 | |
| ENST00000558518.6:c.1274del MANE Select | ENSP00000454071.1:p.Asn425ThrfsTer2 | |
| ENST00000252444.9:c.1528del | ||
| ENST00000455727.6:c.770del | ENSP00000397829.2:p.Asn257ThrfsTer2 | |
| ENST00000535915.5:c.1151del | ENSP00000440520.1:p.Asn384ThrfsTer2 | |
| ENST00000545707.5:c.893del | ENSP00000437639.1:p.Asn298ThrfsTer2 | |
| ENST00000557933.5:c.1274del | ENSP00000453557.1:p.Asn425ThrfsTer2 | |
| ENST00000558013.5:c.1274del | ENSP00000453346.1:p.Asn425ThrfsTer2 | |
| ENST00000558518.5:c.1274del | ENSP00000454071.1:p.Asn425ThrfsTer2 | |
| ENST00000560173.1:n.273del | ||
| ENST00000560467.1:c.754del | ||
| NM_000527.4:c.1274del , LRG_274t1:c.1274del | NP_000518.1:p.Asn425ThrfsTer2 | |
| NM_001195798.1:c.1274del | NP_001182727.1:p.Asn425ThrfsTer2 | |
| NM_001195799.1:c.1151del | NP_001182728.1:p.Asn384ThrfsTer2 | |
| NM_001195800.1:c.770del | NP_001182729.1:p.Asn257ThrfsTer2 | |
| NM_001195803.1:c.893del | NP_001182732.1:p.Asn298ThrfsTer2 | |
| XM_011528010.1:c.1274del | XP_011526312.1:p.Asn425ThrfsTer2 | |
| XM_011528011.1:c.893del | XP_011526313.1:p.Asn298ThrfsTer2 | |
| XR_244074.2:n.1424del | ||
| XM_011528010.2:c.1274del | XP_011526312.1:p.Asn425ThrfsTer2 | |
| XR_001753685.2:n.1391del | ||
| XR_001753686.2:n.1391del | ||
| NM_000527.5:c.1274del MANE Select | NP_000518.1:p.Asn425ThrfsTer2 | |
| NM_001195798.2:c.1274del | NP_001182727.1:p.Asn425ThrfsTer2 | |
| NM_001195799.2:c.1151del | NP_001182728.1:p.Asn384ThrfsTer2 | |
| NM_001195800.2:c.770del | NP_001182729.1:p.Asn257ThrfsTer2 | |
| NM_001195803.2:c.893del | NP_001182732.1:p.Asn298ThrfsTer2 |