Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29920628_29920633delinsAGCAGC , CM000664.2:g.29920628_29920633delinsAGCAGC | GRCh38 |
| NC_000002.11:g.30143494_30143499delinsAGCAGC , CM000664.1:g.30143494_30143499delinsAGCAGC | GRCh37 |
| NC_000002.10:g.29996998_29997003delinsAGCAGC | NCBI36 |
| NG_009445.1:g.5934_5939delinsGCTGCT , LRG_488:g.5934_5939delinsGCTGCT |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004304.5:c.27_32delinsGCTGCT MANE Select | NP_004295.2:p.Pro11Leu |
| ENST00000389048.8:c.27_32delinsGCTGCT MANE Select | ENSP00000373700.3:p.Pro11Leu |
| NM_004304.4:c.27_32delinsGCTGCT | NP_004295.2:p.Pro11Leu |
| ENST00000389048.7:c.27_32delinsGCTGCT | ENSP00000373700.3:p.Pro11Leu |
| XR_001738688.2:n.957_962delinsGCTGCT |