Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624578_41624579dup , CM000679.2:g.41624578_41624579dup | GRCh38 |
| NC_000017.10:g.39780830_39780831dup , CM000679.1:g.39780830_39780831dup | GRCh37 |
| NC_000017.9:g.37034356_37034357dup | NCBI36 |
| NG_008625.1:g.5053_5054dup | |
| NG_009090.2:g.167135_167136dup , LRG_401:g.167135_167136dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463128.5:c.-313+165_-313+166dup | ENSP00000468672.1:n.-313+165_-313+166dup | |
| NM_000422.2:c.-69_-68dup | NP_000413.1:n.-69_-68dup |