Linked Data
ClinVar Variation Id:
224972
ClinVar RCV Id:
RCV000210718
dbSNP Id:
rs869312987
PubMed:
PMID:12384776
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66082880del , CM000669.2:g.66082880del | GRCh38 |
| NC_000007.13:g.65547867del , CM000669.1:g.65547867del | GRCh37 |
| NC_000007.12:g.65185302del | NCBI36 |
| NG_009288.1:g.12092del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000304874.14:c.292del | ||
| ENST00000362000.10:c.97del | ||
| ENST00000380839.9:c.292del | ||
| ENST00000395331.4:c.292del | ||
| ENST00000395332.8:c.292del | ||
| ENST00000671817.1:c.292del | ||
| ENST00000672498.1:c.292del | ||
| ENST00000672586.1:n.197del | ||
| ENST00000672676.1:n.462del | ||
| ENST00000673149.1:n.104del | ||
| ENST00000673350.1:n.540del | ||
| ENST00000673518.1:c.292del | ||
| ENST00000673594.1:n.141del | ||
| ENST00000304874.13:c.292del | ||
| ENST00000362000.9:c.97del | ||
| ENST00000380839.8:c.292del | ||
| ENST00000395331.3:c.292del | ||
| ENST00000395332.7:c.292del | ||
| ENST00000487982.5:n.358del | ||
| ENST00000496336.1:n.533del | ||
| NM_000048.3:c.292del | ||
| NM_001024943.1:c.292del | ||
| NM_001024944.1:c.292del | ||
| NM_001024946.1:c.292del | ||
| NM_000048.4:c.292del | ||
| NM_001024943.2:c.292del | ||
| NM_001024944.2:c.292del | ||
| NM_001024946.2:c.292del |