Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42405164dup , CM000679.2:g.42405164dup | GRCh38 |
| NC_000017.10:g.40557182dup , CM000679.1:g.40557182dup | GRCh37 |
| NC_000017.9:g.37810708dup | NCBI36 |
| NG_015845.1:g.23157dup | |
| NG_015845.2:g.23157dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012232.6:c.696dup MANE Select | NP_036364.2:p.Lys233GlnfsTer? |
| ENST00000357037.6:c.696dup MANE Select | ENSP00000349541.4:p.Lys233GlnfsTer? |
| NM_012232.5:c.696dup | NP_036364.2:p.Lys233GlnfsTer? |
| ENST00000357037.5:c.696dup | ENSP00000349541.4:p.Lys233GlnfsTer? |