Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129061942dup , CM000665.2:g.129061942dup | GRCh38 |
| NC_000003.11:g.128780785dup , CM000665.1:g.128780785dup | GRCh37 |
| NC_000003.10:g.130263475dup | NCBI36 |
| NG_008715.1:g.6141dup , LRG_477:g.6141dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307395.5:c.203dup MANE Select | ENSP00000303942.4:p.Ala70SerfsTer3 | |
| ENST00000307395.4:c.203dup | ENSP00000303942.4:p.Ala70SerfsTer3 | |
| NM_000174.4:c.203dup , LRG_477t1:c.203dup | NP_000165.1:p.Ala70SerfsTer3 | |
| XM_005247374.3:c.203dup | XP_005247431.1:p.Ala70SerfsTer3 | |
| XM_011512701.1:c.203dup | XP_011511003.1:p.Ala70SerfsTer3 | |
| XM_011512702.1:c.203dup | XP_011511004.1:p.Ala70SerfsTer3 | |
| NM_000174.5:c.203dup MANE Select | NP_000165.1:p.Ala70SerfsTer3 |