MyVariant.info:
GRCh38
chr19:g.47841867del
GRCh38
chr19:g.47841858del
GRCh37
chr19:g.48345124del
GRCh37
chr19:g.48345115del
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.40137599 (NFE)
Genomes Max Group AF
0.401458 (NFE)
Exomes Max Group AF
0.13042246 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47841867del , CM000681.2:g.47841867del | GRCh38 |
| NC_000019.9:g.48345124del , CM000681.1:g.48345124del | GRCh37 |
| NC_000019.8:g.53036936del | NCBI36 |
| NG_008605.1:g.25026del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221996.12:c.*1900del MANE Select | ENSP00000221996.5:n.*1900del | |
| ENST00000221996.11:c.*1900del | ENSP00000221996.5:n.*1900del | |
| ENST00000539067.5:c.*467-687del | ENSP00000445565.1:n.*467-687del | |
| ENST00000602001.1:n.46-645del | ||
| ENST00000613299.1:c.*2522del | ENSP00000478106.1:n.*2522del | |
| NM_000554.4:c.*1900del | NP_000545.1:n.*1900del | |
| NM_000554.5:c.*1900del | NP_000545.1:n.*1900del | |
| NM_000554.6:c.*1900del MANE Select | NP_000545.1:n.*1900del |