gnomAD v4:
Joint Max Group AF
0.00005895 (MID)
Exomes Max Group AF
0.00006177 (MID)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.199911736del , CM000664.2:g.199911736del | GRCh38 |
| NC_000002.11:g.200776459del , CM000664.1:g.200776459del | GRCh37 |
| NC_000002.10:g.200484704del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319974.6:c.298del MANE Select | ENSP00000312770.5:p.Gln100SerfsTer18 | |
| ENST00000319974.5:c.298del | ENSP00000312770.5:p.Gln100SerfsTer18 | |
| ENST00000491721.1:n.431del | ||
| NM_153689.5:c.298del | NP_710156.3:p.Gln100SerfsTer18 | |
| NM_153689.6:c.298del MANE Select | NP_710156.3:p.Gln100SerfsTer18 |