Linked Data
dbSNP Id:
rs774253138
ExAC:
16:47537031 TC / T
gnomAD v2:
16-47537031-TC-T
gnomAD v3:
16-47503120-TC-T
gnomAD v4:
16-47503120-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.47503123del , CM000678.2:g.47503123del | GRCh38 |
| NC_000016.9:g.47537034del , CM000678.1:g.47537034del | GRCh37 |
| NC_000016.8:g.46094535del | NCBI36 |
| NG_016598.1:g.46825del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696809.1:c.384+33del | ENSP00000512887.1:n.384+33del | |
| ENST00000699276.1:c.384+33del | ENSP00000514257.1:n.384+33del | |
| ENST00000323584.10:c.405+33del MANE Select | ENSP00000313504.5:n.405+33del | |
| ENST00000299167.12:c.405+33del | ENSP00000299167.8:n.405+33del | |
| ENST00000323584.9:c.405+33del | ENSP00000313504.5:n.405+33del | |
| ENST00000563376.5:c.384+33del | ENSP00000457905.1:n.384+33del | |
| ENST00000565424.2:n.96+41697del | ||
| ENST00000566037.6:c.384+33del | ENSP00000455664.2:n.384+33del | |
| ENST00000566044.5:c.384+33del | ENSP00000456729.1:n.384+33del | |
| ENST00000567402.5:n.420+33del | ||
| ENST00000570047.2:c.239+33del | ||
| NM_000293.2:c.405+33del | NP_000284.1:n.405+33del | |
| NM_001031835.2:c.384+33del | NP_001027005.1:n.384+33del | |
| XM_005255983.3:c.405+33del | XP_005256040.1:n.405+33del | |
| XM_005255984.3:c.384+33del | XP_005256041.1:n.384+33del | |
| XM_011523106.1:c.405+33del | XP_011521408.1:n.405+33del | |
| NM_001363837.1:c.405+33del | NP_001350766.1:n.405+33del | |
| XM_005255983.4:c.405+33del | XP_005256040.1:n.405+33del | |
| XM_005255984.4:c.384+33del | XP_005256041.1:n.384+33del | |
| XM_017023283.1:c.-1101+33del | XP_016878772.1:n.-1101+33del | |
| XM_017023284.1:c.-1101+33del | XP_016878773.1:n.-1101+33del | |
| XR_001751913.1:n.420+33del | ||
| NM_000293.3:c.405+33del MANE Select | NP_000284.1:n.405+33del | |
| NM_001031835.3:c.384+33del | NP_001027005.1:n.384+33del |