Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40934339dup , CM000677.2:g.40934339dup | GRCh38 |
| NC_000015.9:g.41226537dup , CM000677.1:g.41226537dup | GRCh37 |
| NC_000015.8:g.39013829dup | NCBI36 |
| NG_046974.1:g.10007dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_019074.4:c.851-209dup MANE Select | NP_061947.1:n.851-209dup |
| ENST00000249749.7:c.851-209dup MANE Select | ENSP00000249749.5:n.851-209dup |
| NM_019074.3:c.851-209dup | NP_061947.1:n.851-209dup |
| ENST00000249749.6:c.851-209dup | ENSP00000249749.5:n.851-209dup |
| ENST00000559440.1:n.1080-209dup |