Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64753522_64753525delinsGTCT , CM000673.2:g.64753522_64753525delinsGTCT | GRCh38 |
| NC_000011.9:g.64520994_64520997delinsGTCT , CM000673.1:g.64520994_64520997delinsGTCT | GRCh37 |
| NC_000011.8:g.64277570_64277573delinsGTCT | NCBI36 |
| NG_013018.1:g.12191_12194delinsAGAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.1397_1400delinsAGAC MANE Select | ENSP00000164139.3:p.Lys466= | |
| ENST00000164139.3:c.1397_1400delinsAGAC | ENSP00000164139.3:p.Lys466= | |
| ENST00000377432.7:c.1133_1136delinsAGAC | ENSP00000366650.3:p.Lys378= | |
| NM_001164716.1:c.1133_1136delinsAGAC | NP_001158188.1:p.Lys378= | |
| NM_005609.2:c.1397_1400delinsAGAC | NP_005600.1:p.Lys466= | |
| NM_005609.3:c.1397_1400delinsAGAC | NP_005600.1:p.Lys466= | |
| NM_005609.4:c.1397_1400delinsAGAC MANE Select | NP_005600.1:p.Lys466= |