Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37796145_37796148del , CM000685.2:g.37796145_37796148del | GRCh38 |
| NC_000023.10:g.37655398_37655401del , CM000685.1:g.37655398_37655401del | GRCh37 |
| NC_000023.9:g.37540338_37540341del | NCBI36 |
| NG_009065.1:g.21125_21128del , LRG_53:g.21125_21128del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696170.1:c.*183+4_*183+7del | ||
| ENST00000696171.1:c.578+4_578+7del | ||
| ENST00000696172.1:c.338-2810_338-2807del | ENSP00000512463.1:n.338-2810_338-2807del | |
| ENST00000378588.5:c.674+4_674+7del | ||
| ENST00000378588.4:c.674+4_674+7del | ||
| ENST00000465127.1:c.171+370145_171+370148del | ENSP00000417050.1:n.171+370145_171+370148... | |
| NM_000397.3:c.674+4_674+7del , LRG_53t1:c.674+4_674+7del | ||
| XM_011543890.1:c.368+4_368+7del | ||
| NM_000397.4:c.674+4_674+7del |