Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119672417dup , CM000672.2:g.119672417dup | GRCh38 |
| NC_000010.10:g.121431929dup , CM000672.1:g.121431929dup | GRCh37 |
| NC_000010.9:g.121421919dup | NCBI36 |
| NG_016125.1:g.26048dup , LRG_742:g.26048dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369085.8:c.670dup MANE Select | ENSP00000358081.4:p.Ser224PhefsTer? | |
| ENST00000369085.7:c.670dup | ENSP00000358081.3:p.Ser224PhefsTer? | |
| ENST00000450186.1:c.496dup | ENSP00000410036.1:p.Ser166PhefsTer? | |
| NM_004281.3:c.670dup , LRG_742t1:c.670dup | NP_004272.2:p.Ser224PhefsTer? | |
| XM_005270287.1:c.670dup | XP_005270344.1:p.Ser224PhefsTer? | |
| XM_005270287.2:c.670dup | XP_005270344.1:p.Ser224PhefsTer? | |
| NM_004281.4:c.670dup MANE Select | NP_004272.2:p.Ser224PhefsTer? |