gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215680290_215680291insAA , CM000663.2:g.215680290_215680291insAA | GRCh38 |
| NC_000001.10:g.215853632_215853633insAA , CM000663.1:g.215853632_215853633insAA | GRCh37 |
| NC_000001.9:g.213920255_213920256insAA | NCBI36 |
| NG_009497.1:g.748106_748107insTT | |
| NG_009497.2:g.748158_748159insTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.12152_12153insTT MANE Select | ENSP00000305941.3:p.Glu4051AspfsTer2 | |
| ENST00000674083.1:c.12152_12153insTT | ENSP00000501296.1:p.Glu4051AspfsTer2 | |
| ENST00000307340.7:c.12152_12153insTT | ENSP00000305941.3:p.Glu4051AspfsTer2 | |
| NM_206933.2:c.12152_12153insTT | NP_996816.2:p.Glu4051AspfsTer2 | |
| NM_206933.3:c.12152_12153insTT | NP_996816.2:p.Glu4051AspfsTer2 | |
| NM_206933.4:c.12152_12153insTT MANE Select | NP_996816.3:p.Glu4051AspfsTer2 |