Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119672504dup , CM000672.2:g.119672504dup | GRCh38 |
| NC_000010.10:g.121432016dup , CM000672.1:g.121432016dup | GRCh37 |
| NC_000010.9:g.121422006dup | NCBI36 |
| NG_016125.1:g.26135dup , LRG_742:g.26135dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.757dup MANE Select | ENSP00000358081.4:p.Asp253GlyfsTer2 | |
| ENST00000369085.7:c.757dup | ENSP00000358081.3:p.Asp253GlyfsTer2 | |
| ENST00000450186.1:c.583dup | ENSP00000410036.1:p.Asp195GlyfsTer2 | |
| NM_004281.3:c.757dup , LRG_742t1:c.757dup | NP_004272.2:p.Asp253GlyfsTer2 | |
| XM_005270287.1:c.757dup | XP_005270344.1:p.Asp253GlyfsTer2 | |
| XM_005270287.2:c.757dup | XP_005270344.1:p.Asp253GlyfsTer2 | |
| NM_004281.4:c.757dup MANE Select | NP_004272.2:p.Asp253GlyfsTer2 |