Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37966190_37966192del , CM000670.2:g.37966190_37966192del | GRCh38 |
| NC_000008.10:g.37823708_37823710del , CM000670.1:g.37823708_37823710del | GRCh37 |
| NC_000008.9:g.37942865_37942867del | NCBI36 |
| NG_011936.1:g.5479_5481del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.282_284del MANE Select | ENSP00000343782.3:p.Ala95del | |
| ENST00000520341.2:n.410_412del | ||
| ENST00000345060.4:c.282_284del | ENSP00000343782.3:p.Ala95del | |
| ENST00000614635.1:c.282_284del | ENSP00000480325.1:p.Ala95del | |
| NM_000025.2:c.282_284del | NP_000016.1:p.Ala95del | |
| NM_000025.3:c.282_284del MANE Select | NP_000016.1:p.Ala95del |