Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129814033_129814037delinsACTCT , CM000671.2:g.129814033_129814037delinsACTCT | GRCh38 |
| NC_000009.11:g.132576312_132576316delinsACTCT , CM000671.1:g.132576312_132576316delinsACTCT | GRCh37 |
| NC_000009.10:g.131616133_131616137delinsACTCT | NCBI36 |
| NG_008049.1:g.15126_15130delinsAGAGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.934_938delinsAGAGT MANE Select | ENSP00000345719.4:p.Arg312= | |
| ENST00000651202.1:c.*202_*206delinsAGAGT | ENSP00000498222.1:n.*202_*206delinsAGAGT | |
| ENST00000351698.4:c.934_938delinsAGAGT | ENSP00000345719.4:p.Arg312= | |
| ENST00000474192.1:n.518_522delinsAGAGT | ||
| NM_000113.2:c.934_938delinsAGAGT | NP_000104.1:p.Arg312= | |
| XR_929731.1:n.1261_1265delinsAGAGT | ||
| XR_929731.3:n.1129_1133delinsAGAGT | ||
| NM_000113.3:c.934_938delinsAGAGT MANE Select | NP_000104.1:p.Arg312= |