gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00051523 (NFE)
Genomes Max Group AF
0.00035392 (AMR)
Exomes Max Group AF
0.0005236 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.101010783del , CM000672.2:g.101010783del | GRCh38 |
| NC_000010.10:g.102770540del , CM000672.1:g.102770540del | GRCh37 |
| NC_000010.9:g.102760530del | NCBI36 |
| NG_028030.1:g.25376del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474125.7:c.*2054del | ENSP00000474447.1:n.*2054del | |
| ENST00000619208.6:c.2107del MANE Select | ENSP00000480489.1:p.Ser703ValfsTer20 | |
| ENST00000474125.6:c.*2054del | ENSP00000474447.1:n.*2054del | |
| ENST00000619208.4:c.2107del | ENSP00000480489.1:p.Ser703ValfsTer20 | |
| NM_001195263.1:c.2107del | NP_001182192.1:p.Ser703ValfsTer20 | |
| XM_011540177.1:c.2107del | XP_011538479.1:p.Ser703ValfsTer20 | |
| XM_011540178.1:c.2104del | XP_011538480.1:p.Ser702ValfsTer20 | |
| XM_011540179.1:c.*69del | XP_011538481.1:n.*69del | |
| XM_011540177.3:c.2107del | XP_011538479.1:p.Ser703ValfsTer20 | |
| XM_011540178.3:c.2104del | XP_011538480.1:p.Ser702ValfsTer20 | |
| XM_011540179.3:c.*69del | XP_011538481.1:n.*69del | |
| NM_001195263.2:c.2107del MANE Select | NP_001182192.1:p.Ser703ValfsTer20 |