Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.226983551_226983553dup , CM000663.2:g.226983551_226983553dup | GRCh38 |
| NC_000001.10:g.227171252_227171254dup , CM000663.1:g.227171252_227171254dup | GRCh37 |
| NC_000001.9:g.225237875_225237877dup | NCBI36 |
| NG_012825.1:g.48315_48317dup | |
| NG_012825.2:g.91016_91018dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366777.4:c.1081-1_1082dup | ||
| ENST00000366779.6:c.*5808-1_*5809dup | ||
| ENST00000676884.1:c.*5930-1_*5931dup | ||
| ENST00000366777.3:c.1081-1_1082dup | ||
| ENST00000366778.5:c.925-1_926dup | ||
| ENST00000366779.5:c.1081-1_1082dup | ||
| ENST00000478406.5:n.1576_1578dup | ||
| ENST00000479852.1:n.29-1_30dup | ||
| ENST00000485462.5:n.471-1_472dup | ||
| NM_020247.4:c.1081-1_1082dup | ||
| XM_005273201.1:c.1081-1_1082dup | ||
| XM_011544238.1:c.1081-1_1082dup | ||
| XM_011544239.1:c.1081-1_1082dup | ||
| XM_011544240.1:c.1081-1_1082dup | ||
| XM_011544241.1:c.1081-1_1082dup | ||
| XM_011544239.2:c.1081-1_1082dup | ||
| XM_011544241.2:c.1081-1_1082dup | ||
| XM_017001852.1:c.1081-1_1082dup | ||
| XM_024448517.1:c.1081-1_1082dup | ||
| XM_024448518.1:c.1081-1_1082dup | ||
| NM_020247.5:c.1081-1_1082dup |