Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23424045_23424048delinsATCC , CM000676.2:g.23424045_23424048delinsATCC | GRCh38 |
| NC_000014.8:g.23893254_23893257delinsATCC , CM000676.1:g.23893254_23893257delinsATCC | GRCh37 |
| NC_000014.7:g.22963094_22963097delinsATCC | NCBI36 |
| NG_007884.1:g.16614_16617delinsGGAT , LRG_384:g.16614_16617delinsGGAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.2781_2784delinsGGAT MANE Select | ENSP00000347507.3:p.Glu927= | |
| ENST00000355349.3:c.2781_2784delinsGGAT | ENSP00000347507.3:p.Glu927= | |
| NM_000257.3:c.2781_2784delinsGGAT | NP_000248.2:p.Glu927= | |
| XR_245686.3:n.2887_2890delinsGGAT | ||
| XM_017021340.1:c.2781_2784delinsGGAT | XP_016876829.1:p.Glu927= | |
| NM_000257.4:c.2781_2784delinsGGAT MANE Select | NP_000248.2:p.Glu927= |