Linked Data
gnomAD v4:
4-52038080-GCCC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52038082_52038084del , CM000666.2:g.52038082_52038084del | GRCh38 |
| NC_000004.11:g.52904248_52904250del , CM000666.1:g.52904248_52904250del | GRCh37 |
| NC_000004.10:g.52599005_52599007del | NCBI36 |
| NG_008891.1:g.5237_5239del , LRG_204:g.5237_5239del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.33+144_33+146del MANE Select | ENSP00000370839.6:n.33+144_33+146del | |
| ENST00000381431.9:c.33+144_33+146del | ENSP00000370839.5:n.33+144_33+146del | |
| ENST00000506357.5:c.19+144_19+146del | ||
| NM_000232.4:c.33+144_33+146del , LRG_204t1:c.33+144_33+146del | NP_000223.1:n.33+144_33+146del | |
| XM_011534403.1:c.33+144_33+146del | XP_011532705.1:n.33+144_33+146del | |
| NM_000232.5:c.33+144_33+146del MANE Select | NP_000223.1:n.33+144_33+146del |