ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.09243989 (AFR)
Genomes Max Group AF
0.08877599 (AFR)
Exomes Max Group AF
0.0952975 (AFR)
MyVariant.info:
GRCh38
chr1:g.16398829_16398830del
GRCh38
chr1:g.16398828_16398829del
GRCh37
chr1:g.16725323_16725324del
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16398831_16398832del , CM000663.2:g.16398831_16398832del | GRCh38 |
| NC_000001.10:g.16725326_16725327del , CM000663.1:g.16725326_16725327del | GRCh37 |
| NC_000001.9:g.16597913_16597914del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335496.5:c.1353-7_1353-6del MANE Select | ENSP00000335612.1:n.1353-7_1353-6del | |
| ENST00000466212.5:n.2798+515_2798+516del | ||
| ENST00000491418.5:c.476+515_476+516del | ENSP00000420753.1:n.476+515_476+516del | |
| ENST00000540400.1:c.1284-7_1284-6del | ENSP00000440046.1:n.1284-7_1284-6del | |
| NM_198546.1:c.1353-7_1353-6del MANE Select | NP_940948.1:n.1353-7_1353-6del | |
| XM_011541407.1:c.2031-7_2031-6del | XP_011539709.1:n.2031-7_2031-6del | |
| XM_011541408.1:c.2031-7_2031-6del | XP_011539710.1:n.2031-7_2031-6del | |
| XM_011541409.1:c.2031-7_2031-6del | XP_011539711.1:n.2031-7_2031-6del | |
| XM_011541410.1:c.2031-7_2031-6del | XP_011539712.1:n.2031-7_2031-6del | |
| XM_011541411.1:c.2031-7_2031-6del | XP_011539713.1:n.2031-7_2031-6del | |
| XM_011541412.1:c.2031-7_2031-6del | XP_011539714.1:n.2031-7_2031-6del | |
| XM_011541413.1:c.2030+515_2030+516del | XP_011539715.1:n.2030+515_2030+516del | |
| XM_011541415.1:c.1545-7_1545-6del | XP_011539717.1:n.1545-7_1545-6del | |
| XM_011541416.1:c.1503-7_1503-6del | XP_011539718.1:n.1503-7_1503-6del | |
| XM_011541418.1:c.1311-7_1311-6del | XP_011539720.1:n.1311-7_1311-6del | |
| XM_011541419.1:c.1311-7_1311-6del | XP_011539721.1:n.1311-7_1311-6del | |
| XM_011541420.1:c.1284-7_1284-6del | XP_011539722.1:n.1284-7_1284-6del | |
| XR_946646.1:n.2343-7_2343-6del | ||
| XR_946647.1:n.2342+515_2342+516del | ||
| NM_001353349.1:c.1284-7_1284-6del | NP_001340278.1:n.1284-7_1284-6del | |
| NR_148413.1:n.2621+515_2621+516del | ||
| XM_011541407.3:c.2031-7_2031-6del | XP_011539709.1:n.2031-7_2031-6del | |
| XM_017001216.2:c.*409_*410del | XP_016856705.1:n.*409_*410del | |
| XM_017001217.2:c.*409_*410del | XP_016856706.1:n.*409_*410del | |
| XM_017001220.2:c.*409_*410del | XP_016856709.1:n.*409_*410del | |
| XM_017001221.2:c.*409_*410del | XP_016856710.1:n.*409_*410del | |
| XM_017001222.2:c.*409_*410del | XP_016856711.1:n.*409_*410del | |
| XM_017001223.2:c.*409_*410del | XP_016856712.1:n.*409_*410del | |
| XM_017001224.2:c.1284-7_1284-6del | XP_016856713.1:n.1284-7_1284-6del | |
| XM_017001225.2:c.*409_*410del | XP_016856714.1:n.*409_*410del | |
| XR_946646.3:n.2343-7_2343-6del | ||
| NR_148413.2:n.2621+515_2621+516del |