Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7528907dup , CM000681.2:g.7528907dup | GRCh38 |
| NC_000019.9:g.7593793dup , CM000681.1:g.7593793dup | GRCh37 |
| NC_000019.8:g.7499793dup | NCBI36 |
| NG_015806.1:g.11298dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1071dup MANE Select | ENSP00000264079.5:p.Leu358AlafsTer? | |
| ENST00000264079.10:c.1071dup | ENSP00000264079.5:p.Leu358AlafsTer? | |
| ENST00000394321.9:n.1386dup | ||
| ENST00000595860.5:n.254dup | ||
| NM_020533.2:c.1071dup | NP_065394.1:p.Leu358AlafsTer? | |
| NM_020533.3:c.1071dup MANE Select | NP_065394.1:p.Leu358AlafsTer? |