Linked Data
gnomAD v4:
4-41746020-CGCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41746029_41746031del , CM000666.2:g.41746029_41746031del | GRCh38 |
| NC_000004.11:g.41748046_41748048del , CM000666.1:g.41748046_41748048del | GRCh37 |
| NC_000004.10:g.41442803_41442805del | NCBI36 |
| NG_008243.1:g.7948_7950del , LRG_513:g.7948_7950del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.729_731del MANE Select | ENSP00000226382.2:p.Ala244del | |
| ENST00000226382.3:c.729_731del | ENSP00000226382.2:p.Ala244del | |
| NM_003924.3:c.729_731del , LRG_513t1:c.729_731del | NP_003915.2:p.Ala244del | |
| NM_003924.4:c.729_731del MANE Select | NP_003915.2:p.Ala244del |