Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23424073_23424074delinsAC , CM000676.2:g.23424073_23424074delinsAC | GRCh38 |
| NC_000014.8:g.23893282_23893283delinsAC , CM000676.1:g.23893282_23893283delinsAC | GRCh37 |
| NC_000014.7:g.22963122_22963123delinsAC | NCBI36 |
| NG_007884.1:g.16588_16589delinsGT , LRG_384:g.16588_16589delinsGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.2755_2756delinsGT MANE Select | ENSP00000347507.3:p.Val919= | |
| ENST00000355349.3:c.2755_2756delinsGT | ENSP00000347507.3:p.Val919= | |
| NM_000257.3:c.2755_2756delinsGT | NP_000248.2:p.Val919= | |
| XR_245686.3:n.2861_2862delinsGT | ||
| XM_017021340.1:c.2755_2756delinsGT | XP_016876829.1:p.Val919= | |
| NM_000257.4:c.2755_2756delinsGT MANE Select | NP_000248.2:p.Val919= |