Linked Data
dbSNP Id:
rs771175614
ExAC:
1:21896825 GA / G
gnomAD v2:
1-21896825-GA-G
gnomAD v4:
1-21570332-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21570334del , CM000663.2:g.21570334del | GRCh38 |
| NC_000001.10:g.21896827del , CM000663.1:g.21896827del | GRCh37 |
| NC_000001.9:g.21769414del | NCBI36 |
| NG_008940.1:g.65970del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374840.8:c.822del MANE Select | ENSP00000363973.3:p.Glu274AspfsTer3 | |
| ENST00000374830.2:c.32del | ||
| ENST00000374832.5:c.822del | ENSP00000363965.1:p.Glu274AspfsTer3 | |
| ENST00000374840.7:c.822del | ENSP00000363973.3:p.Glu274AspfsTer3 | |
| ENST00000539907.5:c.591del | ENSP00000437674.1:p.Glu197AspfsTer3 | |
| ENST00000540617.5:c.657del | ENSP00000442672.1:p.Glu219AspfsTer3 | |
| NM_000478.4:c.822del | NP_000469.3:p.Glu274AspfsTer3 | |
| NM_001127501.2:c.657del | NP_001120973.2:p.Glu219AspfsTer3 | |
| NM_001177520.1:c.591del | NP_001170991.1:p.Glu197AspfsTer3 | |
| XM_005245818.1:c.822del | XP_005245875.1:p.Glu274AspfsTer3 | |
| XM_005245820.2:c.822del | XP_005245877.1:p.Glu274AspfsTer3 | |
| XM_006710546.1:c.822del | XP_006710609.1:p.Glu274AspfsTer3 | |
| NM_000478.5:c.822del | NP_000469.3:p.Glu274AspfsTer3 | |
| NM_001127501.3:c.657del | NP_001120973.2:p.Glu219AspfsTer3 | |
| NM_001177520.2:c.591del | NP_001170991.1:p.Glu197AspfsTer3 | |
| XM_006710546.3:c.822del | XP_006710609.1:p.Glu274AspfsTer3 | |
| XM_017000903.1:c.666del | XP_016856392.1:p.Glu222AspfsTer3 | |
| NM_000478.6:c.822del MANE Select | NP_000469.3:p.Glu274AspfsTer3 | |
| NM_001127501.4:c.657del | NP_001120973.2:p.Glu219AspfsTer3 | |
| NM_001177520.3:c.591del | NP_001170991.1:p.Glu197AspfsTer3 | |
| NM_001369803.2:c.822del | NP_001356732.1:p.Glu274AspfsTer3 | |
| NM_001369804.2:c.822del | NP_001356733.1:p.Glu274AspfsTer3 | |
| NM_001369805.2:c.822del | NP_001356734.1:p.Glu274AspfsTer3 |