Linked Data
ClinVar Variation Id:
2796942
ClinVar RCV Id:
RCV003670920
dbSNP Id:
rs775204282
gnomAD v2:
16-88876480-CCAGTGGCCAG-C
gnomAD v4:
16-88810072-CCAGTGGCCAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88810076_88810085del , CM000678.2:g.88810076_88810085del | GRCh38 |
| NC_000016.9:g.88876484_88876493del , CM000678.1:g.88876484_88876493del | GRCh37 |
| NC_000016.8:g.87403985_87403994del | NCBI36 |
| NG_008013.1:g.6853_6862del | |
| NG_028266.1:g.11299_11308del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378364.8:c.388_397del MANE Select | ENSP00000367615.3:p.Leu130ValfsTer4 | |
| ENST00000378364.7:c.388_397del | ENSP00000367615.3:p.Leu130ValfsTer4 | |
| ENST00000426324.6:c.388_397del | ENSP00000397007.2:p.Leu130ValfsTer4 | |
| ENST00000562464.1:n.398_407del | ||
| ENST00000563655.5:c.307_316del | ENSP00000456012.1:p.Leu103ValfsTer4 | |
| ENST00000567057.5:n.187_196del | ||
| ENST00000567391.5:c.*62_*71del | ENSP00000457964.1:n.*62_*71del | |
| ENST00000567713.5:c.321+341_321+350del | ENSP00000455749.1:n.321+341_321+350del | |
| ENST00000568319.5:c.*62_*71del | ENSP00000456905.1:n.*62_*71del | |
| ENST00000568575.1:n.317_326del | ||
| ENST00000569616.1:c.386_395del | ||
| NM_000485.2:c.388_397del | NP_000476.1:p.Leu130ValfsTer4 | |
| NM_001030018.1:c.388_397del | NP_001025189.1:p.Leu130ValfsTer4 | |
| NM_000485.3:c.388_397del MANE Select | NP_000476.1:p.Leu130ValfsTer4 | |
| NM_001030018.2:c.388_397del | NP_001025189.1:p.Leu130ValfsTer4 |