MyVariant.info:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006042 (NFE)
Exomes Max Group AF
0.00006324 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100218751_100218762del , CM000663.2:g.100218751_100218762del | GRCh38 |
| NC_000001.10:g.100684307_100684318del , CM000663.1:g.100684307_100684318del | GRCh37 |
| NC_000001.9:g.100456895_100456906del | NCBI36 |
| NG_011852.2:g.36092_36103del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681617.1:c.434-15_434-4del | ENSP00000505544.1:n.434-15_434-4del | |
| ENST00000681780.1:c.-110-15_-110-4del | ENSP00000505780.1:n.-110-15_-110-4del | |
| ENST00000370131.3:c.434-15_434-4del | ENSP00000359150.3:n.434-15_434-4del | |
| ENST00000370132.8:c.434-15_434-4del MANE Select | ENSP00000359151.3:n.434-15_434-4del | |
| NM_001918.3:c.434-15_434-4del | NP_001909.3:n.434-15_434-4del | |
| XM_005270545.2:c.-110-15_-110-4del | XP_005270602.1:n.-110-15_-110-4del | |
| XM_005270546.2:c.-110-15_-110-4del | XP_005270603.1:n.-110-15_-110-4del | |
| XR_946560.1:n.454-15_454-4del | ||
| XM_005270545.4:c.-110-15_-110-4del | XP_005270602.1:n.-110-15_-110-4del | |
| XM_017000468.2:c.-110-15_-110-4del | XP_016855957.1:n.-110-15_-110-4del | |
| XM_017000469.2:c.-110-15_-110-4del | XP_016855958.1:n.-110-15_-110-4del | |
| XR_946560.3:n.451-15_451-4del | ||
| NM_001918.4:c.434-15_434-4del | NP_001909.3:n.434-15_434-4del | |
| NM_001918.5:c.434-15_434-4del MANE Select | NP_001909.4:n.434-15_434-4del | |
| NM_001399969.1:c.-110-15_-110-4del | NP_001386898.1:n.-110-15_-110-4del | |
| NM_001399972.1:c.-110-15_-110-4del | NP_001386901.1:n.-110-15_-110-4del | |
| NR_174363.1:n.266-15_266-4del | ||
| NR_174364.1:n.448-15_448-4del | ||
| NR_174365.1:n.448-15_448-4del | ||
| NR_174366.1:n.448-15_448-4del |