Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119676622dup , CM000672.2:g.119676622dup | GRCh38 |
| NC_000010.10:g.121436134dup , CM000672.1:g.121436134dup | GRCh37 |
| NC_000010.9:g.121426124dup | NCBI36 |
| NG_016125.1:g.30253dup , LRG_742:g.30253dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004281.4:c.1068dup MANE Select | NP_004272.2:p.Pro357ThrfsTer4 |
| ENST00000369085.8:c.1068dup MANE Select | ENSP00000358081.4:p.Pro357ThrfsTer4 |
| NM_004281.3:c.1068dup , LRG_742t1:c.1068dup | NP_004272.2:p.Pro357ThrfsTer4 |
| ENST00000369085.7:c.1068dup | ENSP00000358081.3:p.Pro357ThrfsTer4 |
| ENST00000450186.1:c.891dup | ENSP00000410036.1:p.Pro298ThrfsTer4 |
| XM_005270287.1:c.1065dup | XP_005270344.1:p.Pro356ThrfsTer4 |
| XM_005270287.2:c.1065dup | XP_005270344.1:p.Pro356ThrfsTer4 |