Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138946059_138946060insAGC , CM000665.2:g.138946059_138946060insAGC | GRCh38 |
| NC_000003.11:g.138664901_138664902insAGC , CM000665.1:g.138664901_138664902insAGC | GRCh37 |
| NC_000003.10:g.140147591_140147592insAGC | NCBI36 |
| NG_012454.1:g.6083_6084insTGC | |
| NG_029796.1:g.3826_3827insAGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.665_666insTGC MANE Select | ENSP00000497217.1:p.Ala222_Ala223insAla | |
| ENST00000330315.3:c.665_666insTGC | ENSP00000333188.3:p.Ala222_Ala223insAla | |
| NM_023067.3:c.665_666insTGC | NP_075555.1:p.Ala222_Ala223insAla | |
| NM_023067.4:c.665_666insTGC MANE Select | NP_075555.1:p.Ala222_Ala223insAla |