Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52451416_52451418del , CM000665.2:g.52451416_52451418del | GRCh38 |
| NC_000003.11:g.52485432_52485434del , CM000665.1:g.52485432_52485434del | GRCh37 |
| NC_000003.10:g.52460472_52460474del | NCBI36 |
| NG_008963.1:g.7627_7629del , LRG_378:g.7627_7629del | |
| NG_033112.1:g.909_911del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003280.3:c.430_432del MANE Select | NP_003271.1:p.Asn144del |
| ENST00000232975.8:c.430_432del MANE Select | ENSP00000232975.3:p.Asn144del |
| NM_003280.2:c.430_432del , LRG_378t1:c.430_432del | NP_003271.1:p.Asn144del |
| ENST00000232975.7:c.430_432del | ENSP00000232975.3:p.Asn144del |