Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23424133_23424135delinsGCC , CM000676.2:g.23424133_23424135delinsGCC | GRCh38 |
| NC_000014.8:g.23893342_23893344delinsGCC , CM000676.1:g.23893342_23893344delinsGCC | GRCh37 |
| NC_000014.7:g.22963182_22963184delinsGCC | NCBI36 |
| NG_007884.1:g.16527_16529delinsGGC , LRG_384:g.16527_16529delinsGGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.2694_2696delinsGGC MANE Select | ENSP00000347507.3:p.Leu898= | |
| ENST00000355349.3:c.2694_2696delinsGGC | ENSP00000347507.3:p.Leu898= | |
| NM_000257.3:c.2694_2696delinsGGC | NP_000248.2:p.Leu898= | |
| XR_245686.3:n.2800_2802delinsGGC | ||
| XM_017021340.1:c.2694_2696delinsGGC | XP_016876829.1:p.Leu898= | |
| NM_000257.4:c.2694_2696delinsGGC MANE Select | NP_000248.2:p.Leu898= |