Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013245_25013269delinsCTCCTCCTCGTCGTCCTCCAGCAGT , CM000685.2:g.25013245_25013269delinsCTCCTCCTCGTCGTCCTCCAGCAGT | GRCh38 |
| NC_000023.10:g.25031362_25031386delinsCTCCTCCTCGTCGTCCTCCAGCAGT , CM000685.1:g.25031362_25031386delinsCTCCTCCTCGTCGTCCTCCAGCAGT | GRCh37 |
| NC_000023.9:g.24941283_24941307delinsCTCCTCCTCGTCGTCCTCCAGCAGT | NCBI36 |
| NG_008281.1:g.7680_7704delinsACTGCTGGAGGACGACGAGGAGGAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.726_750delinsACTGCTGGAGGACGACGAGGAGGAG MANE Select | ENSP00000368332.4:p.Glu242= | |
| ENST00000379044.4:c.726_750delinsACTGCTGGAGGACGACGAGGAGGAG | ENSP00000368332.4:p.Glu242= | |
| NM_139058.2:c.726_750delinsACTGCTGGAGGACGACGAGGAGGAG | NP_620689.1:p.Glu242= | |
| NM_139058.3:c.726_750delinsACTGCTGGAGGACGACGAGGAGGAG MANE Select | NP_620689.1:p.Glu242= |