Linked Data
dbSNP Id:
rs763990606
ExAC:
15:40308919 TA / T
gnomAD v2:
15-40308919-TA-T
gnomAD v4:
15-40016718-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40016720del , CM000677.2:g.40016720del | GRCh38 |
| NC_000015.9:g.40308921del , CM000677.1:g.40308921del | GRCh37 |
| NC_000015.8:g.38096213del | NCBI36 |
| NG_034053.1:g.87597del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263791.10:c.3930+48del MANE Select | ENSP00000263791.5:n.3930+48del | |
| ENST00000263791.9:c.3930+48del | ENSP00000263791.5:n.3930+48del | |
| ENST00000558557.1:n.923-388del | ||
| ENST00000558629.5:n.2847+48del | ||
| ENST00000560855.5:c.3262+48del | ||
| NM_001013703.3:c.3930+48del | NP_001013725.2:n.3930+48del | |
| XM_005254392.1:c.3930+48del | XP_005254449.1:n.3930+48del | |
| XM_011521599.1:c.3930+48del | XP_011519901.1:n.3930+48del | |
| XM_011521600.1:c.3760-388del | XP_011519902.1:n.3760-388del | |
| XM_005254392.3:c.3930+48del | XP_005254449.1:n.3930+48del | |
| XM_011521599.2:c.3930+48del | XP_011519901.1:n.3930+48del | |
| XM_011521600.3:c.3760-388del | XP_011519902.1:n.3760-388del | |
| XM_017022219.2:c.3760-388del | XP_016877708.1:n.3760-388del | |
| NM_001013703.4:c.3930+48del MANE Select | NP_001013725.2:n.3930+48del |