Linked Data
ClinVar Variation Id:
988023
ClinVar RCV Id:
RCV001269415
dbSNP Id:
rs755380873
ExAC:
16:88876118 CAGGAG / C
gnomAD v2:
16-88876118-CAGGAG-C
gnomAD v4:
16-88809710-CAGGAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88809713_88809717del , CM000678.2:g.88809713_88809717del | GRCh38 |
| NC_000016.9:g.88876121_88876125del , CM000678.1:g.88876121_88876125del | GRCh37 |
| NC_000016.8:g.87403622_87403626del | NCBI36 |
| NG_008013.1:g.7220_7224del | |
| NG_028266.1:g.10936_10940del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378364.8:c.526_530del MANE Select | ENSP00000367615.3:p.Leu176AlafsTer3 | |
| ENST00000378364.7:c.526_530del | ENSP00000367615.3:p.Leu176AlafsTer3 | |
| ENST00000426324.6:c.401-9_401-5del | ENSP00000397007.2:n.401-9_401-5del | |
| ENST00000563655.5:c.445_449del | ENSP00000456012.1:p.Leu149AlafsTer3 | |
| ENST00000567057.5:n.200-9_200-5del | ||
| ENST00000567391.5:c.*200_*204del | ENSP00000457964.1:n.*200_*204del | |
| ENST00000567713.5:c.322-180_322-176del | ENSP00000455749.1:n.322-180_322-176del | |
| ENST00000568319.5:c.*75-9_*75-5del | ENSP00000456905.1:n.*75-9_*75-5del | |
| ENST00000568575.1:n.455_459del | ||
| ENST00000569616.1:c.591_595del | ||
| NM_000485.2:c.526_530del | NP_000476.1:p.Leu176AlafsTer3 | |
| NM_001030018.1:c.401-9_401-5del | NP_001025189.1:n.401-9_401-5del | |
| NM_000485.3:c.526_530del MANE Select | NP_000476.1:p.Leu176AlafsTer3 | |
| NM_001030018.2:c.401-9_401-5del | NP_001025189.1:n.401-9_401-5del |