Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35848277dup , CM000681.2:g.35848277dup | GRCh38 |
| NC_000019.9:g.36339179dup , CM000681.1:g.36339179dup | GRCh37 |
| NC_000019.8:g.41031019dup | NCBI36 |
| NG_013356.2:g.26012dup , LRG_693:g.26012dup | |
| NG_051206.1:g.1643dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004646.4:c.1292dup MANE Select | NP_004637.1:p.Ser432ValfsTer16 |
| ENST00000378910.10:c.1292dup MANE Select | ENSP00000368190.4:p.Ser432ValfsTer16 |
| NM_004646.3:c.1292dup , LRG_693t1:c.1292dup | NP_004637.1:p.Ser432ValfsTer16 |
| ENST00000353632.6:c.1292dup | ENSP00000343634.5:p.Ser432ValfsTer16 |
| ENST00000378910.9:c.1292dup | ENSP00000368190.4:p.Ser432ValfsTer16 |
| ENST00000592132.1:n.299dup |