Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7527542dup , CM000681.2:g.7527542dup | GRCh38 |
| NC_000019.9:g.7592428dup , CM000681.1:g.7592428dup | GRCh37 |
| NC_000019.8:g.7498428dup | NCBI36 |
| NG_015806.1:g.9933dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.594dup MANE Select | ENSP00000264079.5:p.Glu199ArgfsTer? | |
| ENST00000264079.10:c.594dup | ENSP00000264079.5:p.Glu199ArgfsTer? | |
| ENST00000394321.9:n.674dup | ||
| ENST00000598406.1:n.415dup | ||
| ENST00000601003.1:c.572-322dup | ENSP00000469074.1:n.572-322dup | |
| NM_020533.2:c.594dup | NP_065394.1:p.Glu199ArgfsTer? | |
| NM_020533.3:c.594dup MANE Select | NP_065394.1:p.Glu199ArgfsTer? |