Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48362959del , CM000675.2:g.48362959del | GRCh38 |
| NC_000013.10:g.48937095del , CM000675.1:g.48937095del | GRCh37 |
| NC_000013.9:g.47835096del | NCBI36 |
| NG_009009.1:g.64213del , LRG_517:g.64213del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000267163.6:c.861+2del MANE Select | ENSP00000267163.4:n.861+2del | |
| ENST00000650461.1:c.861+2del | ENSP00000497193.1:n.861+2del | |
| ENST00000267163.4:c.861+2del | ENSP00000267163.4:n.861+2del | |
| NM_000321.2:c.861+2del , LRG_517t1:c.861+2del | NP_000312.2:n.861+2del | |
| XM_011535171.1:c.600+2del | XP_011533473.1:n.600+2del | |
| XM_011535171.2:c.600+2del | XP_011533473.1:n.600+2del | |
| NM_000321.3:c.861+2del MANE Select | NP_000312.2:n.861+2del |