Linked Data
gnomAD v4:
4-52028033-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52028034dup , CM000666.2:g.52028034dup | GRCh38 |
| NC_000004.11:g.52894200dup , CM000666.1:g.52894200dup | GRCh37 |
| NC_000004.10:g.52588957dup | NCBI36 |
| NG_008891.1:g.15286dup , LRG_204:g.15286dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.687dup MANE Select | ENSP00000370839.6:p.Glu230Ter | |
| ENST00000381431.9:c.687dup | ENSP00000370839.5:p.Glu230Ter | |
| NM_000232.4:c.687dup , LRG_204t1:c.687dup | NP_000223.1:p.Glu230Ter | |
| XM_006714049.2:c.390dup | XP_006714112.1:p.Glu131Ter | |
| XM_011534403.1:c.477dup | XP_011532705.1:p.Glu160Ter | |
| XM_011534404.1:c.390dup | XP_011532706.1:p.Glu131Ter | |
| NM_000232.5:c.687dup MANE Select | NP_000223.1:p.Glu230Ter |