MyVariant.info:
GRCh38
chr8:g.96331100_96331105del
GRCh38
chr8:g.96331099_96331104del
GRCh37
chr8:g.97343327_97343332del
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.41655972 (NFE)
Genomes Max Group AF
0.41653887 (NFE)
Exomes Max Group AF
0.41633972 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.96331107_96331112del , CM000670.2:g.96331107_96331112del | GRCh38 |
| NC_000008.10:g.97343335_97343340del , CM000670.1:g.97343335_97343340del | GRCh37 |
| NC_000008.9:g.97412511_97412516del | NCBI36 |
| NG_034054.1:g.74222_74227del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517309.6:c.1312+12_1312+17del MANE Select | ENSP00000430548.1:n.1312+12_1312+17del | |
| ENST00000337004.8:c.*815+12_*815+17del | ENSP00000337331.4:n.*815+12_*815+17del | |
| ENST00000517309.5:c.1312+12_1312+17del | ENSP00000430548.1:n.1312+12_1312+17del | |
| ENST00000517982.1:n.779+12_779+17del | ||
| ENST00000522072.1:c.703+12_703+17del | ENSP00000430928.1:n.703+12_703+17del | |
| NM_001290225.1:c.874+12_874+17del | NP_001277154.1:n.874+12_874+17del | |
| NM_014754.2:c.1312+12_1312+17del | NP_055569.1:n.1312+12_1312+17del | |
| NM_001290225.2:c.874+12_874+17del | NP_001277154.1:n.874+12_874+17del | |
| NM_014754.3:c.1312+12_1312+17del MANE Select | NP_055569.1:n.1312+12_1312+17del |