Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47332160del , CM000673.2:g.47332160del | GRCh38 |
| NC_000011.9:g.47353711del , CM000673.1:g.47353711del | GRCh37 |
| NC_000011.8:g.47310287del | NCBI36 |
| NG_007667.1:g.25543del , LRG_386:g.25543del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545968.6:c.3726del MANE Select | ENSP00000442795.1:p.Lys1242AsnfsTer? | |
| ENST00000256993.8:c.3726del | ENSP00000256993.5:p.Lys1242AsnfsTer? | |
| ENST00000399249.6:c.3726del | ENSP00000382193.2:p.Lys1242AsnfsTer? | |
| ENST00000545968.5:c.3726del | ENSP00000442795.1:p.Lys1242AsnfsTer? | |
| NM_000256.3:c.3726del , LRG_386t1:c.3726del MANE Select | NP_000247.2:p.Lys1242AsnfsTer? | |
| XM_011520117.1:c.3708del | XP_011518419.1:p.Lys1236AsnfsTer? | |
| XM_011520118.1:c.3645del | XP_011518420.1:p.Lys1215AsnfsTer? |