Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14871534_14871536delinsAGC , CM000667.2:g.14871534_14871536delinsAGC | GRCh38 |
| NC_000005.9:g.14871643_14871645delinsAGC , CM000667.1:g.14871643_14871645delinsAGC | GRCh37 |
| NC_000005.8:g.14924643_14924645delinsAGC | NCBI36 |
| NG_008273.1:g.5243_5245delinsGCT | |
| NG_008273.2:g.5250_5252delinsGCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.-89_-87delinsGCT MANE Select | ENSP00000284268.6:n.-89_-87delinsGCT | |
| ENST00000284268.6:c.-89_-87delinsGCT | ENSP00000284268.6:n.-89_-87delinsGCT | |
| ENST00000505140.1:c.-89_-87delinsGCT | ENSP00000426332.1:n.-89_-87delinsGCT | |
| NM_054027.4:c.-89_-87delinsGCT | NP_473368.1:n.-89_-87delinsGCT | |
| XM_011514067.1:c.-89_-87delinsGCT | XP_011512369.1:n.-89_-87delinsGCT | |
| NM_054027.5:c.-89_-87delinsGCT | NP_473368.1:n.-89_-87delinsGCT | |
| NM_054027.6:c.-89_-87delinsGCT MANE Select | NP_473368.1:n.-89_-87delinsGCT |