Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94775486_94775487delinsAC , CM000672.2:g.94775486_94775487delinsAC | GRCh38 |
| NC_000010.10:g.96535243_96535244delinsAC , CM000672.1:g.96535243_96535244delinsAC | GRCh37 |
| NC_000010.9:g.96525233_96525234delinsAC | NCBI36 |
| NG_008384.2:g.17781_17782delinsAC | |
| NG_008384.3:g.17806_17807delinsAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.428_429delinsAC MANE Select | ENSP00000360372.3:p.Asp143= | |
| ENST00000645461.1:n.1481_1482delinsAC | ||
| ENST00000371321.7:c.428_429delinsAC | ENSP00000360372.3:p.Asp143= | |
| ENST00000464755.1:c.1191_1192delinsAC | ENSP00000483243.1:n.1191_1192delinsAC | |
| ENST00000480405.2:c.428_429delinsAC | ENSP00000483847.1:p.Asp143= | |
| NM_000769.2:c.428_429delinsAC | NP_000760.1:p.Asp143= | |
| NM_000769.4:c.428_429delinsAC MANE Select | NP_000760.1:p.Asp143= |