Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189004121del , CM000664.2:g.189004121del | GRCh38 |
| NC_000002.11:g.189868847del , CM000664.1:g.189868847del | GRCh37 |
| NC_000002.10:g.189577092del | NCBI36 |
| NG_007404.1:g.34749del , LRG_3:g.34749del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.2702del | ENSP00000415346.2:p.Ser901CysfsTer? | |
| ENST00000304636.9:c.2801del MANE Select | ENSP00000304408.4:p.Ser934CysfsTer? | |
| ENST00000304636.7:c.2801del | ENSP00000304408.3:p.Ser934CysfsTer? | |
| ENST00000317840.9:c.2527+1085del | ENSP00000315243.6:n.2527+1085del | |
| NM_000090.3:c.2801del , LRG_3t1:c.2801del | NP_000081.1:p.Ser934CysfsTer? | |
| NM_000090.4:c.2801del MANE Select | NP_000081.2:p.Ser934CysfsTer? |