Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8745701_8745703del , CM000665.2:g.8745701_8745703del | GRCh38 |
| NC_000003.11:g.8787387_8787389del , CM000665.1:g.8787387_8787389del | GRCh37 |
| NC_000003.10:g.8762387_8762389del | NCBI36 |
| NG_008797.2:g.16892_16894del , LRG_329:g.16892_16894del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343849.3:c.290_292del MANE Select | ENSP00000341940.2:p.Phe97del | |
| ENST00000343849.2:c.290_292del | ENSP00000341940.2:p.Phe97del | |
| ENST00000397368.2:c.290_292del | ENSP00000380525.2:p.Phe97del | |
| ENST00000472766.1:n.155+11711_155+11713del | ||
| NM_001234.4:c.290_292del | NP_001225.1:p.Phe97del | |
| NM_033337.2:c.290_292del , LRG_329t1:c.290_292del | NP_203123.1:p.Phe97del | |
| NM_001234.5:c.290_292del | NP_001225.1:p.Phe97del | |
| NM_033337.3:c.290_292del MANE Select | NP_203123.1:p.Phe97del |