Linked Data
gnomAD v4:
4-52038249-G-GAGCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52038249_52038250insAGCT , CM000666.2:g.52038249_52038250insAGCT | GRCh38 |
| NC_000004.11:g.52904415_52904416insAGCT , CM000666.1:g.52904415_52904416insAGCT | GRCh37 |
| NC_000004.10:g.52599172_52599173insAGCT | NCBI36 |
| NG_008891.1:g.5070_5071insAGCT , LRG_204:g.5070_5071insAGCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.10_11insAGCT MANE Select | ENSP00000370839.6:p.Ala4GlufsTer22 | |
| ENST00000381431.9:c.10_11insAGCT | ENSP00000370839.5:p.Ala4GlufsTer22 | |
| NM_000232.4:c.10_11insAGCT , LRG_204t1:c.10_11insAGCT | NP_000223.1:p.Ala4GlufsTer22 | |
| XM_011534403.1:c.10_11insAGCT | XP_011532705.1:p.Ala4GlufsTer26 | |
| NM_000232.5:c.10_11insAGCT MANE Select | NP_000223.1:p.Ala4GlufsTer22 |