MyVariant.info:
GRCh38
chr11:g.89227950del
GRCh38
chr11:g.89227949del
GRCh37
chr11:g.88961118del
GRCh37
chr11:g.88961117del
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000429 (NFE)
Exomes Max Group AF
0.00000455 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89227950del , CM000673.2:g.89227950del | GRCh38 |
| NC_000011.9:g.88961118del , CM000673.1:g.88961118del | GRCh37 |
| NC_000011.8:g.88600766del | NCBI36 |
| NG_008748.1:g.55079del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.6:c.1164del MANE Select | ENSP00000263321.4:p.His389ThrfsTer? | |
| ENST00000263321.5:c.1164del | ENSP00000263321.4:p.His389ThrfsTer? | |
| NM_000372.4:c.1164del | NP_000363.1:p.His389ThrfsTer? | |
| XM_011542970.1:c.1164del | XP_011541272.1:p.His389ThrfsTer? | |
| XM_011542970.2:c.1164del | XP_011541272.1:p.His389ThrfsTer? | |
| XR_001748321.1:n.2717+43511del | ||
| XR_001748322.1:n.2732+43511del | ||
| NM_000372.5:c.1164del MANE Select | NP_000363.1:p.His389ThrfsTer? |