Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48579405del , CM000665.2:g.48579405del | GRCh38 |
| NC_000003.11:g.48616838del , CM000665.1:g.48616838del | GRCh37 |
| NC_000003.10:g.48591842del | NCBI36 |
| NG_007065.1:g.20852del , LRG_286:g.20852del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681320.1:c.5275del | ||
| ENST00000328333.12:c.5275del | ||
| ENST00000487017.5:n.1192del | ||
| NM_000094.3:c.5275del , LRG_286t1:c.5275del | ||
| XM_011533336.1:c.5302del | ||
| XM_011533337.1:c.5275del | ||
| XM_011533338.1:c.5302del | ||
| XM_011533339.1:c.5302del | ||
| XM_011533340.1:c.5302del | ||
| XM_011533341.1:c.5302del | ||
| XM_011533342.1:c.5302del | ||
| XR_940369.1:n.5338del | ||
| XR_940370.1:n.5338del | ||
| XR_940371.1:n.5338del | ||
| XR_940372.1:n.5338del | ||
| XR_940373.1:n.5338del | ||
| XR_940374.1:n.5338del | ||
| XR_940375.1:n.5338del | ||
| XM_017005688.1:c.5275del | ||
| XM_017005689.1:c.5275del | ||
| XM_017005690.1:c.5275del | ||
| XM_017005691.1:c.5275del | ||
| XM_017005692.1:c.5275del | ||
| XR_001740003.1:n.5311del | ||
| XR_001740004.1:n.5311del | ||
| XR_001740005.1:n.5311del | ||
| XR_001740006.1:n.5311del | ||
| XR_001740007.1:n.5311del | ||
| XR_001740008.1:n.5311del | ||
| XR_001740009.1:n.5311del | ||
| NM_000094.4:c.5275del |