Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.30313937_30313940delinsAGAG , CM000672.2:g.30313937_30313940delinsAGAG | GRCh38 |
| NC_000010.10:g.30602866_30602869delinsAGAG , CM000672.1:g.30602866_30602869delinsAGAG | GRCh37 |
| NC_000010.9:g.30642872_30642875delinsAGAG | NCBI36 |
| NG_028096.1:g.40399_40402delinsCTCT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263063.9:c.1418_1421delinsCTCT MANE Select | ENSP00000263063.3:p.Pro473= | |
| ENST00000263063.8:c.1418_1421delinsCTCT | ENSP00000263063.3:p.Pro473= | |
| ENST00000488290.5:n.3173_3176delinsCTCT | ||
| NM_018109.3:c.1418_1421delinsCTCT | NP_060579.3:p.Pro473= | |
| NM_018109.4:c.1418_1421delinsCTCT MANE Select | NP_060579.3:p.Pro473= |