Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46132007_46132008del , CM000683.2:g.46132007_46132008del | GRCh38 |
| NC_000021.8:g.47551921_47551922del , CM000683.1:g.47551921_47551922del | GRCh37 |
| NC_000021.7:g.46376349_46376350del | NCBI36 |
| NG_008675.1:g.38889_38890del , LRG_476:g.38889_38890del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300527.9:c.2515_2516del MANE Select | ENSP00000300527.4:p.Asp839ArgfsTer7 | |
| ENST00000300527.8:c.2515_2516del | ENSP00000300527.4:p.Asp839ArgfsTer7 | |
| NM_001849.3:c.2515_2516del , LRG_476t1:c.2515_2516del | NP_001840.3:p.Asp839ArgfsTer7 | |
| XM_011529451.1:c.2515_2516del | XP_011527753.1:p.Asp839ArgfsTer7 | |
| XM_011529452.1:c.2515_2516del | XP_011527754.1:p.Asp839ArgfsTer7 | |
| XR_937438.1:n.2592_2593del | ||
| XR_937438.2:n.2599_2600del | ||
| NM_001849.4:c.2515_2516del MANE Select | NP_001840.3:p.Asp839ArgfsTer7 |