Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48459806dup , CM000675.2:g.48459806dup | GRCh38 |
| NC_000013.10:g.49033942dup , CM000675.1:g.49033942dup | GRCh37 |
| NC_000013.9:g.47931943dup | NCBI36 |
| NG_009009.1:g.161060dup , LRG_517:g.161060dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.2079dup MANE Select | ENSP00000267163.4:p.Leu694ThrfsTer27 | |
| ENST00000643064.1:c.194+78363dup | ||
| ENST00000650461.1:c.2079dup | ENSP00000497193.1:p.Leu694ThrfsTer27 | |
| ENST00000267163.4:c.2079dup | ENSP00000267163.4:p.Leu694ThrfsTer27 | |
| NM_000321.2:c.2079dup , LRG_517t1:c.2079dup | NP_000312.2:p.Leu694ThrfsTer27 | |
| XM_011535171.1:c.1818dup | XP_011533473.1:p.Leu607ThrfsTer27 | |
| XM_011535171.2:c.1818dup | XP_011533473.1:p.Leu607ThrfsTer27 | |
| NM_000321.3:c.2079dup MANE Select | NP_000312.2:p.Leu694ThrfsTer27 |