Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215648594_215648599dup , CM000663.2:g.215648594_215648599dup | GRCh38 |
| NC_000001.10:g.215821936_215821941dup , CM000663.1:g.215821936_215821941dup | GRCh37 |
| NC_000001.9:g.213888559_213888564dup | NCBI36 |
| NG_009497.1:g.779798_779803dup | |
| NG_009497.2:g.779850_779855dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_206933.4:c.14511_14516dup MANE Select | NP_996816.3:p.Thr4839_Leu4840insGlyThr |
| ENST00000307340.8:c.14511_14516dup MANE Select | ENSP00000305941.3:p.Thr4839_Leu4840insGlyThr |
| NM_206933.2:c.14511_14516dup | NP_996816.2:p.Thr4839_Leu4840insGlyThr |
| NM_206933.3:c.14511_14516dup | NP_996816.2:p.Thr4839_Leu4840insGlyThr |
| ENST00000307340.7:c.14511_14516dup | ENSP00000305941.3:p.Thr4839_Leu4840insGlyThr |
| ENST00000674083.1:c.14511_14516dup | ENSP00000501296.1:p.Thr4839_Leu4840insGlyThr |