Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47286395_47286397dup , CM000679.2:g.47286395_47286397dup | GRCh38 |
| NC_000017.10:g.45363761_45363763dup , CM000679.1:g.45363761_45363763dup | GRCh37 |
| NC_000017.9:g.42718760_42718762dup | NCBI36 |
| NG_008332.2:g.37554_37556dup , LRG_481:g.37554_37556dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696963.1:c.750_752dup | ENSP00000513002.1:p.Ala251_Ile252insAla | |
| ENST00000559488.7:c.750_752dup MANE Select | ENSP00000452786.2:p.Ala251_Ile252insAla | |
| ENST00000559488.5:c.750_752dup | ENSP00000452786.1:p.Ala251_Ile252insAla | |
| ENST00000560629.1:c.715_717dup | ||
| ENST00000571680.1:c.750_752dup | ENSP00000461626.1:p.Ala251_Ile252insAla | |
| NM_000212.2:c.750_752dup , LRG_481t1:c.750_752dup | NP_000203.2:p.Ala251_Ile252insAla | |
| NM_000212.3:c.750_752dup MANE Select | NP_000203.2:p.Ala251_Ile252insAla |