Linked Data
dbSNP Id:
rs1429557878
gnomAD v2:
5-96139102-AT-A
gnomAD v3:
5-96803399-AT-A
gnomAD v4:
5-96803399-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96803400del , CM000667.2:g.96803400del | GRCh38 |
| NC_000005.9:g.96139103del , CM000667.1:g.96139103del | GRCh37 |
| NC_000005.8:g.96164859del | NCBI36 |
| NG_027839.1:g.15746del | |
| NG_027839.2:g.137584del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000443439.7:c.524+3del MANE Select | ENSP00000406304.2:n.524+3del | |
| ENST00000296754.7:c.524+3del | ENSP00000296754.3:n.524+3del | |
| ENST00000443439.6:c.524+3del | ENSP00000406304.2:n.524+3del | |
| ENST00000503921.5:c.-61+3del | ENSP00000427025.1:n.-61+3del | |
| ENST00000508227.5:c.-41+3del | ENSP00000422631.1:n.-41+3del | |
| NM_001040458.1:c.524+3del | NP_001035548.1:n.524+3del | |
| NM_001198541.1:c.524+3del | NP_001185470.1:n.524+3del | |
| NM_016442.3:c.524+3del | NP_057526.3:n.524+3del | |
| XM_005272015.3:c.524+3del | XP_005272072.1:n.524+3del | |
| XM_005272016.3:c.524+3del | XP_005272073.1:n.524+3del | |
| XM_011543480.1:c.524+3del | XP_011541782.1:n.524+3del | |
| XM_011543481.1:c.524+3del | XP_011541783.1:n.524+3del | |
| XM_011543482.1:c.524+3del | XP_011541784.1:n.524+3del | |
| XM_011543483.1:c.524+3del | XP_011541785.1:n.524+3del | |
| XM_011543484.1:c.524+3del | XP_011541786.1:n.524+3del | |
| XM_011543485.1:c.524+3del | XP_011541787.1:n.524+3del | |
| XM_011543486.1:c.524+3del | XP_011541788.1:n.524+3del | |
| XM_011543487.1:c.524+3del | XP_011541789.1:n.524+3del | |
| NM_001040458.2:c.524+3del | NP_001035548.1:n.524+3del | |
| NM_001198541.2:c.524+3del | NP_001185470.1:n.524+3del | |
| NM_001349244.1:c.524+3del | NP_001336173.1:n.524+3del | |
| NM_016442.4:c.524+3del | NP_057526.3:n.524+3del | |
| XM_005272015.5:c.524+3del | XP_005272072.1:n.524+3del | |
| XM_005272016.4:c.524+3del | XP_005272073.1:n.524+3del | |
| XM_011543480.2:c.524+3del | XP_011541782.1:n.524+3del | |
| XM_011543481.2:c.524+3del | XP_011541783.1:n.524+3del | |
| XM_011543484.2:c.524+3del | XP_011541786.1:n.524+3del | |
| XM_011543485.2:c.524+3del | XP_011541787.1:n.524+3del | |
| XM_011543486.3:c.524+3del | XP_011541788.1:n.524+3del | |
| XM_017009581.1:c.524+3del | XP_016865070.1:n.524+3del | |
| XM_017009583.2:c.-519+3del | XP_016865072.1:n.-519+3del | |
| XM_024446113.1:c.524+3del | XP_024301881.1:n.524+3del | |
| XR_001742119.2:n.817+3del | ||
| NM_001040458.3:c.524+3del MANE Select | NP_001035548.1:n.524+3del | |
| NM_001198541.3:c.524+3del | NP_001185470.1:n.524+3del | |
| NM_001349244.2:c.524+3del | NP_001336173.1:n.524+3del | |
| NM_016442.5:c.524+3del | NP_057526.3:n.524+3del |