Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23423678_23423679delinsGG , CM000676.2:g.23423678_23423679delinsGG | GRCh38 |
| NC_000014.8:g.23892887_23892888delinsGG , CM000676.1:g.23892887_23892888delinsGG | GRCh37 |
| NC_000014.7:g.22962727_22962728delinsGG | NCBI36 |
| NG_007884.1:g.16983_16984delinsCC , LRG_384:g.16983_16984delinsCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.2967_2968delinsCC MANE Select | ENSP00000347507.3:p.Ala990Pro | |
| ENST00000355349.3:c.2967_2968delinsCC | ENSP00000347507.3:p.Ala990Pro | |
| NM_000257.3:c.2967_2968delinsCC | NP_000248.2:p.Ala990Pro | |
| XR_245686.3:n.3073_3074delinsCC | ||
| XM_017021340.1:c.2967_2968delinsCC | XP_016876829.1:p.Ala990Pro | |
| NM_000257.4:c.2967_2968delinsCC MANE Select | NP_000248.2:p.Ala990Pro |