Linked Data
ClinVar Variation Id:
370497
ClinVar RCV Id:
RCV000410286
dbSNP Id:
rs1057516534
PubMed:
PMID:25595217
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101430776del , CM000671.2:g.101430776del | GRCh38 |
| NC_000009.11:g.104193058del , CM000671.1:g.104193058del | GRCh37 |
| NC_000009.10:g.103232879del | NCBI36 |
| NG_012387.1:g.10006del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647789.2:c.112+1del | ||
| ENST00000648064.1:c.112+1del | ||
| ENST00000648423.1:c.112+1del | ||
| ENST00000648758.1:c.112+1del | ||
| ENST00000648906.1:n.282+1del | ||
| ENST00000649902.1:c.112+1del | ||
| ENST00000650613.1:n.188+1del | ||
| ENST00000374855.8:c.112+1del | ||
| ENST00000616752.1:c.112+1del | ||
| NM_000035.3:c.112+1del | ||
| NM_000035.4:c.112+1del |