Linked Data
gnomAD v4:
4-41746053-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41746056del , CM000666.2:g.41746056del | GRCh38 |
| NC_000004.11:g.41748073del , CM000666.1:g.41748073del | GRCh37 |
| NC_000004.10:g.41442830del | NCBI36 |
| NG_008243.1:g.7917del , LRG_513:g.7917del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.698del MANE Select | ENSP00000226382.2:p.Gly233GlufsTer? | |
| ENST00000226382.3:c.698del | ENSP00000226382.2:p.Gly233GlufsTer? | |
| ENST00000510424.2:n.519del | ||
| NM_003924.3:c.698del , LRG_513t1:c.698del | NP_003915.2:p.Gly233GlufsTer? | |
| NM_003924.4:c.698del MANE Select | NP_003915.2:p.Gly233GlufsTer? |