Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154903948_154903949del , CM000685.2:g.154903948_154903949del | GRCh38 |
| NC_000023.10:g.154132223_154132224del , CM000685.1:g.154132223_154132224del | GRCh37 |
| NC_000023.9:g.153785417_153785418del | NCBI36 |
| NG_011403.1:g.123780_123781del | |
| NG_011403.2:g.123780_123781del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.5960_5961del MANE Select | ENSP00000353393.4:p.Lys1987ArgfsTer4 | |
| ENST00000360256.8:c.5960_5961del | ENSP00000353393.4:p.Lys1987ArgfsTer4 | |
| NM_000132.3:c.5960_5961del | NP_000123.1:p.Lys1987ArgfsTer4 | |
| XM_011531126.1:c.5855_5856del | XP_011529428.1:p.Lys1952ArgfsTer4 | |
| NM_000132.4:c.5960_5961del MANE Select | NP_000123.1:p.Lys1987ArgfsTer4 |