Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39247582_39247584delinsACT , CM000681.2:g.39247582_39247584delinsACT | GRCh38 |
| NC_000019.9:g.39738222_39738224delinsACT , CM000681.1:g.39738222_39738224delinsACT | GRCh37 |
| NC_000019.8:g.44430062_44430064delinsACT | NCBI36 |
| NG_042193.1:g.2388_2390delinsAGT | |
| NG_055295.1:g.6273_6275delinsAGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000606380.2:c.368-121_368-119delinsAGT | ENSP00000476098.1:n.368-121_368-119delinsAGT | |
| ENST00000610963.1:c.367-121_367-119delinsAGT | ENSP00000481371.1:n.367-121_367-119delinsAGT | |
| ENST00000616270.4:c.306_308delinsAGT | ENSP00000480679.1:p.Gly102= | |
| ENST00000634680.1:c.152-121_152-119delinsAGT | ENSP00000489240.1:n.152-121_152-119delinsAGT | |
| ENST00000634967.1:c.224-121_224-119delinsAGT | ENSP00000489559.1:n.224-121_224-119delinsAGT | |
| NR_074079.1:n.645-121_645-119delinsAGT |