Linked Data
ClinVar Variation Id:
555797
ClinVar RCV Id:
RCV000671688
dbSNP Id:
rs1334974448
ERepo:
CA16020994/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102840399_102840404del , CM000674.2:g.102840399_102840404del | GRCh38 |
| NC_000012.11:g.103234177_103234182del , CM000674.1:g.103234177_103234182del | GRCh37 |
| NC_000012.10:g.101758307_101758312del | NCBI36 |
| NG_008690.1:g.82202_82207del | |
| NG_008690.2:g.123010_123015del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1314_1315+4del | ||
| ENST00000307000.7:c.1299_1300+4del | ||
| ENST00000551114.2:n.976_977+4del | ||
| ENST00000553106.5:c.1314_1315+4del | ||
| ENST00000635477.1:c.418_419+4del | ||
| ENST00000635528.1:n.829_830+4del | ||
| NM_000277.1:c.1314_1315+4del | ||
| XM_011538422.1:c.1257_1258+4del | ||
| NM_000277.2:c.1314_1315+4del | ||
| NM_001354304.1:c.1314_1315+4del | ||
| NM_000277.3:c.1314_1315+4del | ||
| NM_001354304.2:c.1314_1315+4del |