Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.15548531dup , CM000672.2:g.15548531dup | GRCh38 |
| NC_000010.10:g.15590530dup , CM000672.1:g.15590530dup | GRCh37 |
| NC_000010.9:g.15630536dup | NCBI36 |
| NG_034116.1:g.176805dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003638.3:c.2804dup MANE Select | NP_003629.2:p.Val936SerfsTer29 |
| ENST00000378076.4:c.2804dup MANE Select | ENSP00000367316.3:p.Val936SerfsTer29 |
| NM_001291494.1:c.2759dup | NP_001278423.1:p.Val921SerfsTer29 |
| NM_001291494.2:c.2759dup | NP_001278423.1:p.Val921SerfsTer29 |
| NM_003638.2:c.2804dup | NP_003629.2:p.Val936SerfsTer29 |
| ENST00000378076.3:c.2804dup | ENSP00000367316.3:p.Val936SerfsTer29 |