Linked Data
ClinVar Variation Id:
298671
ClinVar RCV Id:
RCV000271504
dbSNP Id:
rs371940445
gnomAD v2:
10-105791243-GT-G
gnomAD v3:
10-104031485-GT-G
gnomAD v4:
10-104031485-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104031489del , CM000672.2:g.104031489del | GRCh38 |
| NC_000010.10:g.105791247del , CM000672.1:g.105791247del | GRCh37 |
| NC_000010.9:g.105781237del | NCBI36 |
| NG_007069.1:g.59395del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369733.8:c.4997del | ENSP00000358748.3:n.4997del | |
| ENST00000647647.1:c.1504del | ||
| ENST00000648076.2:c.*749del MANE Select | ENSP00000497653.1:n.*749del | |
| ENST00000353479.9:c.*749del | ENSP00000340937.5:n.*749del | |
| ENST00000369733.7:c.*749del | ENSP00000358748.3:n.*749del | |
| ENST00000433822.1:c.339del | ||
| NM_000494.3:c.*749del | NP_000485.3:n.*749del | |
| NM_000494.4:c.*749del MANE Select | NP_000485.3:n.*749del |