Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52452462_52452463del , CM000665.2:g.52452462_52452463del | GRCh38 |
| NC_000003.11:g.52486478_52486479del , CM000665.1:g.52486478_52486479del | GRCh37 |
| NC_000003.10:g.52461518_52461519del | NCBI36 |
| NG_008963.1:g.6579_6580del , LRG_378:g.6579_6580del | |
| NG_033112.1:g.1955_1956del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003280.3:c.55+20_55+21del MANE Select | NP_003271.1:n.55+20_55+21del |
| ENST00000232975.8:c.55+20_55+21del MANE Select | ENSP00000232975.3:n.55+20_55+21del |
| NM_003280.2:c.55+20_55+21del , LRG_378t1:c.55+20_55+21del | NP_003271.1:n.55+20_55+21del |
| ENST00000232975.7:c.55+20_55+21del | ENSP00000232975.3:n.55+20_55+21del |
| ENST00000496590.1:c.-78+20_-78+21del | ENSP00000420596.1:n.-78+20_-78+21del |