Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965714dup , CM000670.2:g.37965714dup | GRCh38 |
| NC_000008.10:g.37823232dup , CM000670.1:g.37823232dup | GRCh37 |
| NC_000008.9:g.37942389dup | NCBI36 |
| NG_011936.1:g.5954dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000025.3:c.757dup MANE Select | NP_000016.1:p.Ala253GlyfsTer? |
| ENST00000345060.5:c.757dup MANE Select | ENSP00000343782.3:p.Ala253GlyfsTer? |
| NM_000025.2:c.757dup | NP_000016.1:p.Ala253GlyfsTer? |
| ENST00000345060.4:c.757dup | ENSP00000343782.3:p.Ala253GlyfsTer? |
| ENST00000520341.1:n.32dup | |
| ENST00000520341.2:n.885dup | |
| ENST00000614635.1:c.757dup | ENSP00000480325.1:p.Ala253GlyfsTer? |
| ENST00000647937.1:c.241dup | ENSP00000497740.1:p.Ala81GlyfsTer? |