Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1205800_1207204dup , CM000681.2:g.1205800_1207204dup | GRCh38 |
| NC_000019.9:g.1205799_1207203dup , CM000681.1:g.1205799_1207203dup | GRCh37 |
| NC_000019.8:g.1156799_1158203dup | NCBI36 |
| NG_007460.2:g.21394_22798dup , LRG_319:g.21394_22798dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000585465.3:c.-1114_290+1dup | ||
| ENST00000585748.3:c.-82-12617_-82-11213dup | ENSP00000477641.2:n.-82-12617_-82-11213du... | |
| ENST00000326873.12:c.-1114_290+1dup | ||
| ENST00000585748.2:c.-82-12617_-82-11213dup | ENSP00000477641.1:n.-82-12617_-82-11213du... | |
| NM_000455.4:c.-1114_290+1dup , LRG_319t1:c.-1114_290+1dup | ||
| NM_000455.5:c.-1114_290+1dup |