Linked Data
ClinVar Variation Id:
2107970
ClinVar RCV Id:
RCV003033919
gnomAD v4:
16-28937264-CCCCCAGG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28937268_28937274del , CM000678.2:g.28937268_28937274del | GRCh38 |
| NC_000016.9:g.28948589_28948595del , CM000678.1:g.28948589_28948595del | GRCh37 |
| NC_000016.8:g.28856090_28856096del | NCBI36 |
| NG_007275.1:g.10330_10336del , LRG_35:g.10330_10336del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324662.8:c.1199-3_1202del | ||
| ENST00000538922.8:c.1199-3_1202del | ||
| ENST00000324662.7:c.1199-3_1202del | ||
| ENST00000538922.5:c.1199-3_1202del | ||
| ENST00000565089.5:n.1533-3_1536del | ||
| ENST00000567368.1:n.339-3_342del | ||
| ENST00000567541.5:c.1199-3_1202del | ||
| ENST00000611258.4:c.1198-3_1201del | ||
| NM_001178098.1:c.1199-3_1202del | ||
| NM_001770.5:c.1199-3_1202del , LRG_35t1:c.1199-3_1202del | ||
| XM_006721103.2:c.932-3_935del | ||
| XM_006721103.3:c.932-3_935del | ||
| XM_017023893.1:c.932-3_935del | ||
| NM_001178098.2:c.1199-3_1202del | ||
| NM_001770.6:c.1199-3_1202del | ||
| NM_001385732.1:c.932-3_935del | ||
| NR_169755.1:n.1541-3_1544del |