Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19117109dup , CM000669.2:g.19117109dup | GRCh38 |
| NC_000007.13:g.19156732dup , CM000669.1:g.19156732dup | GRCh37 |
| NC_000007.12:g.19123257dup | NCBI36 |
| NG_008114.1:g.5566dup | |
| NG_008114.2:g.5566dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.215dup MANE Select | ENSP00000242261.5:p.Lys73GlnfsTer? | |
| ENST00000242261.5:c.215dup | ENSP00000242261.5:p.Lys73GlnfsTer? | |
| ENST00000354571.5:c.12dup | ||
| NM_000474.3:c.215dup | NP_000465.1:p.Lys73GlnfsTer? | |
| XM_011515496.1:c.215dup | XP_011513798.1:p.Lys73GlnfsTer? | |
| NR_149001.1:n.566dup | ||
| NM_000474.4:c.215dup MANE Select | NP_000465.1:p.Lys73GlnfsTer? | |
| NR_149001.2:n.530dup |