Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51913351dup , CM000674.2:g.51913351dup | GRCh38 |
| NC_000012.11:g.52307135dup , CM000674.1:g.52307135dup | GRCh37 |
| NC_000012.10:g.50593402dup | NCBI36 |
| NG_009549.1:g.10934dup , LRG_543:g.10934dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547400.6:c.355+1dup | ||
| ENST00000551576.6:c.313+1dup | ||
| ENST00000552678.2:c.313+1dup | ||
| ENST00000388922.9:c.313+1dup | ||
| ENST00000388922.8:c.313+1dup | ||
| ENST00000419526.6:c.103+816dup | ENSP00000392492.2:n.103+816dup | |
| ENST00000547400.5:c.355+1dup | ||
| ENST00000550683.5:c.355+1dup | ||
| NM_000020.2:c.313+1dup , LRG_543t1:c.313+1dup | ||
| NM_001077401.1:c.313+1dup | ||
| XM_005269235.2:c.313+1dup | ||
| XM_011539008.1:c.355+1dup | ||
| XM_024449279.1:c.-377+1dup | ||
| NM_000020.3:c.313+1dup | ||
| NM_001077401.2:c.313+1dup |