Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49457767_49457774dup , CM000668.2:g.49457767_49457774dup | GRCh38 |
| NC_000006.11:g.49425480_49425487dup , CM000668.1:g.49425480_49425487dup | GRCh37 |
| NC_000006.10:g.49533439_49533446dup | NCBI36 |
| NG_007100.1:g.10367_10374dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000255.4:c.671_678dup MANE Select | NP_000246.2:p.Val227AsnfsTer16 |
| ENST00000274813.4:c.671_678dup MANE Select | ENSP00000274813.3:p.Val227AsnfsTer16 |
| NM_000255.3:c.671_678dup | NP_000246.2:p.Val227AsnfsTer16 |
| ENST00000274813.3:c.671_678dup | ENSP00000274813.3:p.Val227AsnfsTer16 |
| XM_005249143.2:c.671_678dup | XP_005249200.1:p.Val227AsnfsTer16 |
| XM_005249143.3:c.671_678dup | XP_005249200.1:p.Val227AsnfsTer16 |