MyVariant.info:
GRCh38
chr22:g.42142195_42142198del
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000261 (NFE)
Exomes Max Group AF
0.00000397 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42142200_42142203del , CM000684.2:g.42142200_42142203del | GRCh38 |
| NC_000022.10:g.42538210_42538213del , CM000684.1:g.42538210_42538213del | GRCh37 |
| NC_000022.9:g.40868154_40868157del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651010.1:n.2621-154_2621-151del | ||
| ENST00000358097.8:c.668-154_668-151del | ENSP00000445124.1:n.668-154_668-151del | |
| ENST00000433992.2:c.668-154_668-151del | ENSP00000439604.1:n.668-154_668-151del | |
| ENST00000610593.4:n.753-154_753-151del | ||
| ENST00000612115.1:c.667-154_667-151del | ENSP00000484065.1:n.667-154_667-151del | |
| ENST00000614967.4:c.514-154_514-151del | ENSP00000481168.1:n.514-154_514-151del | |
| NR_002570.3:n.779-154_779-151del | ||
| NM_001348386.2:c.667-154_667-151del | NP_001335315.1:n.667-154_667-151del | |
| NR_002570.5:n.687-154_687-151del | ||
| NR_145674.2:n.687-154_687-151del | ||
| NM_001348386.3:c.667-154_667-151del | NP_001335315.1:n.667-154_667-151del | |
| NR_002570.6:n.687-154_687-151del | ||
| NR_145674.3:n.687-154_687-151del |