Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32315494del , CM000675.2:g.32315494del | GRCh38 |
| NC_000013.10:g.32889631del , CM000675.1:g.32889631del | GRCh37 |
| NC_000013.9:g.31787631del | NCBI36 |
| NG_012772.3:g.5015del , LRG_293:g.5015del | |
| NG_017006.1:g.1461del | |
| NG_017006.2:g.4870del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000544455.6:c.-40+349del | ENSP00000439902.1:n.-40+349del | |
| ENST00000380152.7:c.-213del | ENSP00000369497.3:n.-213del | |
| ENST00000544455.5:c.-213del | ENSP00000439902.1:n.-213del | |
| NM_000059.3:c.-213del , LRG_293t1:c.-213del | NP_000050.2:n.-213del | |
| XM_011535203.1:c.-40+349del | XP_011533505.1:n.-40+349del | |
| XM_011535204.1:c.-213del | XP_011533506.1:n.-213del | |
| XM_011535205.1:c.-213del | XP_011533507.1:n.-213del |