Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117799895del , CM000670.2:g.117799895del | GRCh38 |
| NC_000008.10:g.118812134del , CM000670.1:g.118812134del | GRCh37 |
| NC_000008.9:g.118881315del | NCBI36 |
| NG_007455.2:g.316926del , LRG_493:g.316926del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000127.3:c.2059del MANE Select | NP_000118.2:p.Ser687LeufsTer19 |
| ENST00000378204.7:c.2059del MANE Select | ENSP00000367446.3:p.Ser687LeufsTer19 |
| NM_000127.2:c.2059del , LRG_493t1:c.2059del | NP_000118.2:p.Ser687LeufsTer19 |
| ENST00000378204.6:c.2059del | ENSP00000367446.2:p.Ser687LeufsTer19 |
| ENST00000437196.1:c.*950del | ENSP00000407299.1:n.*950del |
| ENST00000684189.1:n.1526del | |
| ENST00000684443.1:n.2185del |