Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149570139_149570140del , CM000664.2:g.149570139_149570140del | GRCh38 |
| NC_000002.11:g.150426653_150426654del , CM000664.1:g.150426653_150426654del | GRCh37 |
| NC_000002.10:g.150134899_150134900del | NCBI36 |
| NG_009189.1:g.22680_22681del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303319.10:c.728_729del MANE Select | ENSP00000301920.5:p.Phe243Ter | |
| ENST00000303319.9:c.728_729del | ENSP00000301920.5:p.Phe243Ter | |
| ENST00000422782.2:c.830_831del | ENSP00000408331.2:p.Phe277Ter | |
| ENST00000428879.5:c.728_729del | ENSP00000389060.1:p.Phe243Ter | |
| NM_015702.2:c.728_729del | NP_056517.1:p.Phe243Ter | |
| NM_015702.3:c.728_729del MANE Select | NP_056517.1:p.Phe243Ter |