Linked Data
gnomAD v4:
4-52038233-TGCA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52038236_52038238del , CM000666.2:g.52038236_52038238del | GRCh38 |
| NC_000004.11:g.52904402_52904404del , CM000666.1:g.52904402_52904404del | GRCh37 |
| NC_000004.10:g.52599159_52599161del | NCBI36 |
| NG_008891.1:g.5084_5086del , LRG_204:g.5084_5086del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.24_26del MANE Select | ENSP00000370839.6:p.Ala9del | |
| ENST00000381431.9:c.24_26del | ENSP00000370839.5:p.Ala9del | |
| ENST00000506357.5:c.10_12del | ||
| NM_000232.4:c.24_26del , LRG_204t1:c.24_26del | NP_000223.1:p.Ala9del | |
| XM_011534403.1:c.24_26del | XP_011532705.1:p.Ala9del | |
| NM_000232.5:c.24_26del MANE Select | NP_000223.1:p.Ala9del |