Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154953988_154953989dup , CM000685.2:g.154953988_154953989dup | GRCh38 |
| NC_000023.10:g.154182263_154182264dup , CM000685.1:g.154182263_154182264dup | GRCh37 |
| NC_000023.9:g.153835457_153835458dup | NCBI36 |
| NG_011403.1:g.73735_73736dup | |
| NG_011403.2:g.73735_73736dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.1806_1807dup MANE Select | ENSP00000353393.4:p.Ser603LysfsTer? | |
| ENST00000647125.1:c.*1682_*1683dup | ENSP00000496062.1:n.*1682_*1683dup | |
| ENST00000360256.8:c.1806_1807dup | ENSP00000353393.4:p.Ser603LysfsTer? | |
| NM_000132.3:c.1806_1807dup | NP_000123.1:p.Ser603LysfsTer? | |
| XM_011531126.1:c.1701_1702dup | XP_011529428.1:p.Ser568LysfsTer? | |
| NM_000132.4:c.1806_1807dup MANE Select | NP_000123.1:p.Ser603LysfsTer? |