Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137192595_137192600del , CM000671.2:g.137192595_137192600del | GRCh38 |
| NC_000009.11:g.140087047_140087052del , CM000671.1:g.140087047_140087052del | GRCh37 |
| NC_000009.10:g.139206868_139206873del | NCBI36 |
| NG_027801.1:g.13134_13139del | |
| NG_027801.2:g.16616_16621del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001128228.3:c.1839_1844del MANE Select | NP_001121700.2:p.Glu614_Glu615del |
| ENST00000409012.6:c.1839_1844del MANE Select | ENSP00000387100.4:p.Glu614_Glu615del |
| NM_001128228.2:c.1839_1844del | NP_001121700.2:p.Glu614_Glu615del |
| ENST00000333046.8:c.1233_1238del | ENSP00000327617.4:p.Glu412_Glu413del |
| ENST00000409012.4:c.1839_1844del | ENSP00000387100.4:p.Glu614_Glu615del |
| ENST00000477345.1:n.2560_2565del |