Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23424091_23424111dup , CM000676.2:g.23424091_23424111dup | GRCh38 |
| NC_000014.8:g.23893300_23893320dup , CM000676.1:g.23893300_23893320dup | GRCh37 |
| NC_000014.7:g.22963140_22963160dup | NCBI36 |
| NG_007884.1:g.16558_16578dup , LRG_384:g.16558_16578dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.2725_2745dup MANE Select | ENSP00000347507.3:p.Leu915_Glu916insIleLysAsnLysIleGlnLeu | |
| ENST00000355349.3:c.2725_2745dup | ENSP00000347507.3:p.Leu915_Glu916insIleLysAsnLysIleGlnLeu | |
| NM_000257.3:c.2725_2745dup | NP_000248.2:p.Leu915_Glu916insIleLysAsnLysIleGlnLeu | |
| XR_245686.3:n.2831_2851dup | ||
| XM_017021340.1:c.2725_2745dup | XP_016876829.1:p.Leu915_Glu916insIleLysAsnLysIleGlnLeu | |
| NM_000257.4:c.2725_2745dup MANE Select | NP_000248.2:p.Leu915_Glu916insIleLysAsnLysIleGlnLeu |