Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6145526_6145530del , CM000668.2:g.6145526_6145530del | GRCh38 |
| NC_000006.11:g.6145759_6145763del , CM000668.1:g.6145759_6145763del | GRCh37 |
| NC_000006.10:g.6090758_6090762del | NCBI36 |
| NG_008107.1:g.180162_180166del , LRG_549:g.180162_180166del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264870.8:c.*89_*93del MANE Select | ENSP00000264870.3:n.*89_*93del | |
| ENST00000264870.7:c.*89_*93del | ENSP00000264870.3:n.*89_*93del | |
| NM_000129.3:c.*89_*93del , LRG_549t1:c.*89_*93del | NP_000120.2:n.*89_*93del | |
| XM_006715010.2:c.*89_*93del | XP_006715073.1:n.*89_*93del | |
| XM_011514342.1:c.*89_*93del | XP_011512644.1:n.*89_*93del | |
| NM_000129.4:c.*89_*93del MANE Select | NP_000120.2:n.*89_*93del |