Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23429316_23429318delinsAAC , CM000676.2:g.23429316_23429318delinsAAC | GRCh38 |
| NC_000014.8:g.23898525_23898527delinsAAC , CM000676.1:g.23898525_23898527delinsAAC | GRCh37 |
| NC_000014.7:g.22968365_22968367delinsAAC | NCBI36 |
| NG_007884.1:g.11344_11346delinsGTT , LRG_384:g.11344_11346delinsGTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.1168_1170delinsGTT MANE Select | ENSP00000347507.3:p.Leu390Val | |
| ENST00000355349.3:c.1168_1170delinsGTT | ENSP00000347507.3:p.Leu390Val | |
| NM_000257.3:c.1168_1170delinsGTT | NP_000248.2:p.Leu390Val | |
| XR_245686.3:n.1274_1276delinsGTT | ||
| XM_017021340.1:c.1168_1170delinsGTT | XP_016876829.1:p.Leu390Val | |
| NM_000257.4:c.1168_1170delinsGTT MANE Select | NP_000248.2:p.Leu390Val |