Linked Data
ClinVar Variation Id:
1570069
dbSNP Id:
rs762183772
gnomAD v4:
19-38502726-A-AGGTGGAGCGGGGCAGGCTTCAG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38502732_38502753dup , CM000681.2:g.38502732_38502753dup | GRCh38 |
| NC_000019.9:g.38993372_38993393dup , CM000681.1:g.38993372_38993393dup | GRCh37 |
| NC_000019.8:g.43685212_43685233dup | NCBI36 |
| NG_008866.1:g.74033_74054dup , LRG_766:g.74033_74054dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599547.6:c.7835+5_7835+26dup | ||
| ENST00000359596.8:c.7835+5_7835+26dup | ||
| ENST00000355481.8:c.7835+5_7835+26dup | ||
| ENST00000359596.7:c.7835+5_7835+26dup | ||
| ENST00000360985.7:c.7832+5_7832+26dup | ||
| ENST00000594335.5:c.1287+5_1287+26dup | ||
| NM_000540.2:c.7835+5_7835+26dup , LRG_766t1:c.7835+5_7835+26dup | ||
| NM_001042723.1:c.7835+5_7835+26dup | ||
| XM_006723317.1:c.7835+5_7835+26dup | ||
| XM_006723319.1:c.7835+5_7835+26dup | ||
| XM_011527204.1:c.7832+5_7832+26dup | ||
| XM_011527205.1:c.7835+5_7835+26dup | ||
| XM_006723317.2:c.7835+5_7835+26dup | ||
| XM_006723319.2:c.7835+5_7835+26dup | ||
| XM_011527205.2:c.7835+5_7835+26dup | ||
| XR_001753735.1:n.7918+5_7918+26dup | ||
| NM_000540.3:c.7835+5_7835+26dup | ||
| NM_001042723.2:c.7835+5_7835+26dup |