Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104034001_104034002del , CM000672.2:g.104034001_104034002del | GRCh38 |
| NC_000010.10:g.105793759_105793760del , CM000672.1:g.105793759_105793760del | GRCh37 |
| NC_000010.9:g.105783749_105783750del | NCBI36 |
| NG_007069.1:g.56880_56881del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369733.8:c.3854_3855del | ENSP00000358748.3:p.Phe1285CysfsTer8 | |
| ENST00000647647.1:c.130_131del | ||
| ENST00000648076.2:c.4100_4101del MANE Select | ENSP00000497653.1:p.Phe1367CysfsTer8 | |
| ENST00000353479.9:c.4100_4101del | ENSP00000340937.5:p.Phe1367CysfsTer8 | |
| ENST00000369733.7:c.3854_3855del | ENSP00000358748.3:p.Phe1285CysfsTer8 | |
| NM_000494.3:c.4100_4101del | NP_000485.3:p.Phe1367CysfsTer8 | |
| NM_000494.4:c.4100_4101del MANE Select | NP_000485.3:p.Phe1367CysfsTer8 |