Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23424131_23424132insAT , CM000676.2:g.23424131_23424132insAT | GRCh38 |
| NC_000014.8:g.23893340_23893341insAT , CM000676.1:g.23893340_23893341insAT | GRCh37 |
| NC_000014.7:g.22963180_22963181insAT | NCBI36 |
| NG_007884.1:g.16530_16531insAT , LRG_384:g.16530_16531insAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.2697_2698insAT MANE Select | ENSP00000347507.3:p.Asp900MetfsTer10 | |
| ENST00000355349.3:c.2697_2698insAT | ENSP00000347507.3:p.Asp900MetfsTer10 | |
| NM_000257.3:c.2697_2698insAT | NP_000248.2:p.Asp900MetfsTer10 | |
| XR_245686.3:n.2803_2804insAT | ||
| XM_017021340.1:c.2697_2698insAT | XP_016876829.1:p.Asp900MetfsTer10 | |
| NM_000257.4:c.2697_2698insAT MANE Select | NP_000248.2:p.Asp900MetfsTer10 |