Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19117045_19117053dup , CM000669.2:g.19117045_19117053dup | GRCh38 |
| NC_000007.13:g.19156668_19156676dup , CM000669.1:g.19156668_19156676dup | GRCh37 |
| NC_000007.12:g.19123193_19123201dup | NCBI36 |
| NG_008114.1:g.5622_5630dup | |
| NG_008114.2:g.5622_5630dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.271_279dup MANE Select | ENSP00000242261.5:p.Ser93_Ser94insGlyGlySer | |
| ENST00000242261.5:c.271_279dup | ENSP00000242261.5:p.Ser93_Ser94insGlyGlySer | |
| ENST00000354571.5:c.68_76dup | ||
| NM_000474.3:c.271_279dup | NP_000465.1:p.Ser93_Ser94insGlyGlySer | |
| XM_011515496.1:c.271_279dup | XP_011513798.1:p.Ser93_Ser94insGlyGlySer | |
| NR_149001.1:n.622_630dup | ||
| NM_000474.4:c.271_279dup MANE Select | NP_000465.1:p.Ser93_Ser94insGlyGlySer | |
| NR_149001.2:n.586_594dup |