Linked Data
dbSNP Id:
rs772561350
gnomAD v2:
4-52894189-AATACACCTTC-A
gnomAD v4:
4-52028023-AATACACCTTC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52028026_52028035del , CM000666.2:g.52028026_52028035del | GRCh38 |
| NC_000004.11:g.52894192_52894201del , CM000666.1:g.52894192_52894201del | GRCh37 |
| NC_000004.10:g.52588949_52588958del | NCBI36 |
| NG_008891.1:g.15287_15296del , LRG_204:g.15287_15296del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381431.10:c.688_697del MANE Select | ENSP00000370839.6:p.Glu230SerfsTer17 | |
| ENST00000381431.9:c.688_697del | ENSP00000370839.5:p.Glu230SerfsTer17 | |
| NM_000232.4:c.688_697del , LRG_204t1:c.688_697del | NP_000223.1:p.Glu230SerfsTer17 | |
| XM_006714049.2:c.391_400del | XP_006714112.1:p.Glu131SerfsTer17 | |
| XM_011534403.1:c.478_487del | XP_011532705.1:p.Glu160SerfsTer17 | |
| XM_011534404.1:c.391_400del | XP_011532706.1:p.Glu131SerfsTer17 | |
| NM_000232.5:c.688_697del MANE Select | NP_000223.1:p.Glu230SerfsTer17 |