Linked Data
ClinVar Variation Id:
56489
ClinVar RCV Id:
RCV000049902
dbSNP Id:
rs386833928
PubMed:
PMID:18503012
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35839604_35839614del , CM000681.2:g.35839604_35839614del | GRCh38 |
| NC_000019.9:g.36330506_36330516del , CM000681.1:g.36330506_36330516del | GRCh37 |
| NC_000019.8:g.41022346_41022356del | NCBI36 |
| NG_013356.2:g.34677_34687del , LRG_693:g.34677_34687del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378910.10:c.2816-4_2822del | ||
| ENST00000353632.6:c.2816-4_2822del | ||
| ENST00000378910.9:c.2816-4_2822del | ||
| NM_004646.3:c.2816-4_2822del , LRG_693t1:c.2816-4_2822del | ||
| NM_004646.4:c.2816-4_2822del |