Linked Data
ClinVar Variation Id:
1654148
ClinVar RCV Id:
RCV002163741
dbSNP Id:
rs750651760
ExAC:
10:17279211 G / GT
gnomAD v2:
10-17279211-G-GT
gnomAD v3:
10-17237212-G-GT
gnomAD v4:
10-17237212-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.17237223dup , CM000672.2:g.17237223dup | GRCh38 |
| NC_000010.10:g.17279222dup , CM000672.1:g.17279222dup | GRCh37 |
| NC_000010.9:g.17319228dup | NCBI36 |
| NG_012413.1:g.13965dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000544301.7:c.1360-7dup MANE Select | ENSP00000446007.1:n.1360-7dup | |
| ENST00000224237.9:c.1360-7dup | ENSP00000224237.5:n.1360-7dup | |
| ENST00000469543.5:c.*987-7dup | ENSP00000431702.1:n.*987-7dup | |
| ENST00000487938.5:c.*468-7dup | ENSP00000435613.1:n.*468-7dup | |
| ENST00000544301.5:c.1360-7dup | ENSP00000446007.1:n.1360-7dup | |
| NM_003380.3:c.1360-7dup | NP_003371.2:n.1360-7dup | |
| XM_006717500.1:c.1360-7dup | XP_006717563.1:n.1360-7dup | |
| XM_011519649.1:c.1360-7dup | XP_011517951.1:n.1360-7dup | |
| NM_003380.4:c.1360-7dup | NP_003371.2:n.1360-7dup | |
| XM_006717500.2:c.1360-7dup | XP_006717563.1:n.1360-7dup | |
| NM_003380.5:c.1360-7dup MANE Select | NP_003371.2:n.1360-7dup |