Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49459254_49459257dup , CM000668.2:g.49459254_49459257dup | GRCh38 |
| NC_000006.11:g.49426967_49426970dup , CM000668.1:g.49426967_49426970dup | GRCh37 |
| NC_000006.10:g.49534926_49534929dup | NCBI36 |
| NG_007100.1:g.8883_8886dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274813.4:c.210_213dup MANE Select | ENSP00000274813.3:p.Leu72ThrfsTer13 | |
| ENST00000274813.3:c.210_213dup | ENSP00000274813.3:p.Leu72ThrfsTer13 | |
| NM_000255.3:c.210_213dup | NP_000246.2:p.Leu72ThrfsTer13 | |
| XM_005249143.2:c.210_213dup | XP_005249200.1:p.Leu72ThrfsTer13 | |
| XM_005249143.3:c.210_213dup | XP_005249200.1:p.Leu72ThrfsTer13 | |
| NM_000255.4:c.210_213dup MANE Select | NP_000246.2:p.Leu72ThrfsTer13 |