Linked Data
gnomAD v4:
20-44115700-CGGCCTCCTTCCGCGCCTTCTTCTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44115705_44115728del , CM000682.2:g.44115705_44115728del | GRCh38 |
| NC_000020.10:g.42744345_42744368del , CM000682.1:g.42744345_42744368del | GRCh37 |
| NC_000020.9:g.42177759_42177782del | NCBI36 |
| NG_031867.1:g.76855_76878del , LRG_394:g.76855_76878del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372980.4:c.1951_1974del MANE Select | ENSP00000362071.3:p.Lys651_Ala658del | |
| ENST00000372980.3:c.1951_1974del | ENSP00000362071.3:p.Lys651_Ala658del | |
| NM_020433.4:c.1951_1974del , LRG_394t1:c.1951_1974del | NP_065166.2:p.Lys651_Ala658del | |
| XM_006723832.2:c.1951_1974del | XP_006723895.1:p.Lys651_Ala658del | |
| NM_020433.5:c.1951_1974del MANE Select | NP_065166.2:p.Lys651_Ala658del |