Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150947372_150953685dup , CM000669.2:g.150947372_150953685dup | GRCh38 |
| NC_000007.13:g.150644460_150650773dup , CM000669.1:g.150644460_150650773dup | GRCh37 |
| NC_000007.12:g.150275393_150281706dup | NCBI36 |
| NG_008916.1:g.29243_35556dup , LRG_288:g.29243_35556dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684241.1:n.1962-831_3942dup | ||
| ENST00000262186.10:c.1129-831_3109dup | ||
| ENST00000330883.9:c.109-831_2089dup | ||
| ENST00000262186.9:c.1129-831_3109dup | ||
| ENST00000330883.8:c.109-831_2089dup | ||
| NM_000238.3:c.1129-831_3109dup , LRG_288t1:c.1129-831_3109dup | ||
| NM_172057.2:c.109-831_2089dup , LRG_288t3:c.109-831_2089dup | ||
| XM_011516185.1:c.829-831_2809dup | ||
| XM_011516185.2:c.829-831_2809dup | ||
| XM_017012195.1:c.979-831_2959dup | ||
| XM_017012196.1:c.952-831_2932dup | ||
| NM_000238.4:c.1129-831_3109dup | ||
| NM_172057.3:c.109-831_2089dup |