Linked Data
gnomAD v4:
4-88008038-AGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88008039_88008040del , CM000666.2:g.88008039_88008040del | GRCh38 |
| NC_000004.11:g.88929191_88929192del , CM000666.1:g.88929191_88929192del | GRCh37 |
| NC_000004.10:g.89148215_89148216del | NCBI36 |
| NG_008604.1:g.5372_5373del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.306_307del MANE Select | ENSP00000237596.2:p.Glu102AspfsTer? | |
| ENST00000237596.6:c.306_307del | ENSP00000237596.2:p.Glu102AspfsTer? | |
| NM_000297.3:c.306_307del | NP_000288.1:p.Glu102AspfsTer? | |
| XM_011532028.1:c.306_307del | XP_011530330.1:p.Glu102AspfsTer? | |
| XR_244632.2:n.401_402del | ||
| NR_156488.1:n.393_394del | ||
| XM_011532028.2:c.306_307del | XP_011530330.1:p.Glu102AspfsTer? | |
| NM_000297.4:c.306_307del MANE Select | NP_000288.1:p.Glu102AspfsTer? | |
| NR_156488.2:n.405_406del |