Linked Data
gnomAD v4:
4-52038114-AGACCCTGCGGCCC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52038116_52038128del , CM000666.2:g.52038116_52038128del | GRCh38 |
| NC_000004.11:g.52904282_52904294del , CM000666.1:g.52904282_52904294del | GRCh37 |
| NC_000004.10:g.52599039_52599051del | NCBI36 |
| NG_008891.1:g.5193_5205del , LRG_204:g.5193_5205del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.33+100_33+112del MANE Select | ENSP00000370839.6:n.33+100_33+112del | |
| ENST00000381431.9:c.33+100_33+112del | ENSP00000370839.5:n.33+100_33+112del | |
| ENST00000506357.5:c.19+100_19+112del | ||
| NM_000232.4:c.33+100_33+112del , LRG_204t1:c.33+100_33+112del | NP_000223.1:n.33+100_33+112del | |
| XM_011534403.1:c.33+100_33+112del | XP_011532705.1:n.33+100_33+112del | |
| NM_000232.5:c.33+100_33+112del MANE Select | NP_000223.1:n.33+100_33+112del |