Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119672396_119672397delinsAC , CM000672.2:g.119672396_119672397delinsAC | GRCh38 |
| NC_000010.10:g.121431908_121431909delinsAC , CM000672.1:g.121431908_121431909delinsAC | GRCh37 |
| NC_000010.9:g.121421898_121421899delinsAC | NCBI36 |
| NG_016125.1:g.26027_26028delinsAC , LRG_742:g.26027_26028delinsAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.649_650delinsAC MANE Select | ENSP00000358081.4:p.Thr217= | |
| ENST00000369085.7:c.649_650delinsAC | ENSP00000358081.3:p.Thr217= | |
| ENST00000450186.1:c.475_476delinsAC | ENSP00000410036.1:p.Thr159= | |
| NM_004281.3:c.649_650delinsAC , LRG_742t1:c.649_650delinsAC | NP_004272.2:p.Thr217= | |
| XM_005270287.1:c.649_650delinsAC | XP_005270344.1:p.Thr217= | |
| XM_005270287.2:c.649_650delinsAC | XP_005270344.1:p.Thr217= | |
| NM_004281.4:c.649_650delinsAC MANE Select | NP_004272.2:p.Thr217= |