Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154903940_154903944del , CM000685.2:g.154903940_154903944del | GRCh38 |
| NC_000023.10:g.154132215_154132219del , CM000685.1:g.154132215_154132219del | GRCh37 |
| NC_000023.9:g.153785409_153785413del | NCBI36 |
| NG_011403.1:g.123780_123784del | |
| NG_011403.2:g.123780_123784del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.5960_5964del MANE Select | ENSP00000353393.4:p.Lys1987ArgfsTer3 | |
| ENST00000360256.8:c.5960_5964del | ENSP00000353393.4:p.Lys1987ArgfsTer3 | |
| NM_000132.3:c.5960_5964del | NP_000123.1:p.Lys1987ArgfsTer3 | |
| XM_011531126.1:c.5855_5859del | XP_011529428.1:p.Lys1952ArgfsTer3 | |
| NM_000132.4:c.5960_5964del MANE Select | NP_000123.1:p.Lys1987ArgfsTer3 |