Linked Data
gnomAD v4:
11-89178189-CGTGGCCTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89178190_89178197del , CM000673.2:g.89178190_89178197del | GRCh38 |
| NC_000011.9:g.88911358_88911365del , CM000673.1:g.88911358_88911365del | GRCh37 |
| NC_000011.8:g.88551006_88551013del | NCBI36 |
| NG_008748.1:g.5319_5326del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.6:c.237_244del MANE Select | ENSP00000263321.4:p.Trp80ArgfsTer4 | |
| ENST00000263321.5:c.237_244del | ENSP00000263321.4:p.Trp80ArgfsTer4 | |
| ENST00000526139.1:n.298_305del | ||
| NM_000372.4:c.237_244del | NP_000363.1:p.Trp80ArgfsTer4 | |
| XM_011542970.1:c.237_244del | XP_011541272.1:p.Trp80ArgfsTer4 | |
| XM_011542970.2:c.237_244del | XP_011541272.1:p.Trp80ArgfsTer4 | |
| XR_001748321.1:n.2718-64664_2718-64657del | ||
| XR_001748322.1:n.2733-64664_2733-64657del | ||
| NM_000372.5:c.237_244del MANE Select | NP_000363.1:p.Trp80ArgfsTer4 |