Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.49633992_49633995dup , CM000676.2:g.49633992_49633995dup | GRCh38 |
| NC_000014.8:g.50100710_50100713dup , CM000676.1:g.50100710_50100713dup | GRCh37 |
| NC_000014.7:g.49170460_49170463dup | NCBI36 |
| NG_013070.1:g.6237_6240dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018139.3:c.1156_1159dup MANE Select | NP_060609.2:p.Glu387GlyfsTer? |
| ENST00000298292.13:c.1156_1159dup MANE Select | ENSP00000298292.8:p.Glu387GlyfsTer? |
| NM_001083908.1:c.1156_1159dup | NP_001077377.1:p.Glu387GlyfsTer? |
| NM_001083908.2:c.1156_1159dup | NP_001077377.1:p.Glu387GlyfsTer? |
| NM_018139.2:c.1156_1159dup | NP_060609.2:p.Glu387GlyfsTer? |
| ENST00000298292.12:c.1156_1159dup | ENSP00000298292.8:p.Glu387GlyfsTer? |
| ENST00000406043.3:c.1156_1159dup | ENSP00000384862.3:p.Glu387GlyfsTer? |