Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21312503_21312506del , CM000676.2:g.21312503_21312506del | GRCh38 |
| NC_000014.8:g.21780662_21780665del , CM000676.1:g.21780662_21780665del | GRCh37 |
| NC_000014.7:g.20850502_20850505del | NCBI36 |
| NG_008933.1:g.29527_29530del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.1148_1151del MANE Select | ENSP00000382895.2:p.Glu383AlafsTer19 | |
| ENST00000400017.6:c.1148_1151del | ENSP00000382895.2:p.Glu383AlafsTer19 | |
| ENST00000556336.5:c.1067_1070del | ENSP00000450445.1:p.Glu356AlafsTer19 | |
| ENST00000557771.5:c.1067_1070del | ENSP00000451219.1:p.Glu356AlafsTer19 | |
| NM_020366.3:c.1148_1151del | NP_065099.3:p.Glu383AlafsTer19 | |
| XM_011536983.1:c.1115_1118del | XP_011535285.1:p.Glu372AlafsTer19 | |
| NM_020366.4:c.1148_1151del MANE Select | NP_065099.3:p.Glu383AlafsTer19 |