Linked Data
ClinVar Variation Id:
2860876
ClinVar RCV Id:
RCV003697104
dbSNP Id:
rs2086538472
gnomAD v3:
10-104057189-G-GA
gnomAD v4:
10-104057189-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104057193dup , CM000672.2:g.104057193dup | GRCh38 |
| NC_000010.10:g.105816951dup , CM000672.1:g.105816951dup | GRCh37 |
| NC_000010.9:g.105806941dup | NCBI36 |
| NG_007069.1:g.33691dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369733.8:c.1268-18dup | ENSP00000358748.3:n.1268-18dup | |
| ENST00000648076.2:c.1268-18dup MANE Select | ENSP00000497653.1:n.1268-18dup | |
| ENST00000650263.1:c.1220-18dup | ENSP00000497850.1:n.1220-18dup | |
| ENST00000353479.9:c.1268-18dup | ENSP00000340937.5:n.1268-18dup | |
| ENST00000369733.7:c.1268-18dup | ENSP00000358748.3:n.1268-18dup | |
| NM_000494.3:c.1268-18dup | NP_000485.3:n.1268-18dup | |
| NM_000494.4:c.1268-18dup MANE Select | NP_000485.3:n.1268-18dup |