Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23431585_23431587delinsAAG , CM000676.2:g.23431585_23431587delinsAAG | GRCh38 |
| NC_000014.8:g.23900794_23900796delinsAAG , CM000676.1:g.23900794_23900796delinsAAG | GRCh37 |
| NC_000014.7:g.22970634_22970636delinsAAG | NCBI36 |
| NG_007884.1:g.9075_9077delinsCTT , LRG_384:g.9075_9077delinsCTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.730_732delinsCTT MANE Select | ENSP00000347507.3:p.Phe244Leu | |
| ENST00000355349.3:c.730_732delinsCTT | ENSP00000347507.3:p.Phe244Leu | |
| NM_000257.3:c.730_732delinsCTT | NP_000248.2:p.Phe244Leu | |
| XR_245686.3:n.836_838delinsCTT | ||
| XM_017021340.1:c.730_732delinsCTT | XP_016876829.1:p.Phe244Leu | |
| NM_000257.4:c.730_732delinsCTT MANE Select | NP_000248.2:p.Phe244Leu |