Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14716755_14716763del , CM000667.2:g.14716755_14716763del | GRCh38 |
| NC_000005.9:g.14716864_14716872del , CM000667.1:g.14716864_14716872del | GRCh37 |
| NC_000005.8:g.14769864_14769872del | NCBI36 |
| NG_008273.1:g.160017_160025del | |
| NG_008273.2:g.160024_160032del | |
| NG_051625.1:g.60962_60970del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.1085_1093del MANE Select | ENSP00000284268.6:p.Ala362_Ala364del | |
| ENST00000284268.6:c.1085_1093del | ENSP00000284268.6:p.Ala362_Ala364del | |
| ENST00000502585.1:n.327_335del | ||
| NM_054027.4:c.1085_1093del | NP_473368.1:p.Ala362_Ala364del | |
| NM_054027.5:c.1085_1093del | NP_473368.1:p.Ala362_Ala364del | |
| XM_017009644.2:c.1001_1009del | XP_016865133.1:p.Ala334_Ala336del | |
| NM_054027.6:c.1085_1093del MANE Select | NP_473368.1:p.Ala362_Ala364del |