MyVariant.info:
GRCh38
chr12:g.88114419_88114420del
GRCh38
chr12:g.88114418_88114419del
GRCh37
chr12:g.88508195_88508196del
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004068 (NFE)
Exomes Max Group AF
0.00004236 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88114419_88114420del , CM000674.2:g.88114419_88114420del | GRCh38 |
| NC_000012.11:g.88508196_88508197del , CM000674.1:g.88508196_88508197del | GRCh37 |
| NC_000012.10:g.87032327_87032328del | NCBI36 |
| NG_008417.1:g.32798_32799del | |
| NG_008417.2:g.32798_32799del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309041.12:c.2052+1_2052+2del | ||
| ENST00000547926.7:c.1909+679_1909+680del | ENSP00000448573.3:n.1909+679_1909+680del | |
| ENST00000552810.6:c.2052+1_2052+2del | ||
| ENST00000671822.2:n.3608+1_3608+2del | ||
| ENST00000672414.2:c.*223+1_*223+2del | ||
| ENST00000673058.2:c.2052+1_2052+2del | ||
| ENST00000674971.1:c.2052+1_2052+2del | ||
| ENST00000675230.1:c.2031+1_2031+2del | ||
| ENST00000675408.1:c.2052+1_2052+2del | ||
| ENST00000675476.1:c.2913+1_2913+2del | ||
| ENST00000675628.1:n.2279+1_2279+2del | ||
| ENST00000675794.1:c.*223+1_*223+2del | ||
| ENST00000675833.1:c.2820+1_2820+2del | ||
| ENST00000676074.1:c.2052+1_2052+2del | ||
| ENST00000676363.1:n.4115+1_4115+2del | ||
| ENST00000676448.1:c.1909+679_1909+680del | ENSP00000501987.1:n.1909+679_1909+680del | |
| ENST00000309041.11:c.2058+1_2058+2del | ||
| ENST00000397838.7:c.2058+1_2058+2del | ||
| ENST00000547926.6:c.1807+679_1807+680del | ENSP00000448573.2:n.1807+679_1807+680del | |
| ENST00000552810.5:c.2052+1_2052+2del | ||
| ENST00000604024.5:c.1311+1_1311+2del | ||
| NM_025114.3:c.2052+1_2052+2del | ||
| XM_011538756.1:c.2913+1_2913+2del | ||
| XM_011538757.1:c.2913+1_2913+2del | ||
| XM_011538758.1:c.2913+1_2913+2del | ||
| XM_011538759.1:c.2913+1_2913+2del | ||
| XM_011538760.1:c.2913+1_2913+2del | ||
| XM_011538761.1:c.2913+1_2913+2del | ||
| XM_011538762.1:c.2145+1_2145+2del | ||
| XM_011538763.1:c.2052+1_2052+2del | ||
| XM_011538764.1:c.2913+1_2913+2del | ||
| XM_011538765.1:c.2913+1_2913+2del | ||
| XM_011538766.1:c.1374+1_1374+2del | ||
| XM_011538756.3:c.2913+1_2913+2del | ||
| XM_011538757.3:c.2913+1_2913+2del | ||
| XM_011538758.3:c.2913+1_2913+2del | ||
| XM_011538759.2:c.2913+1_2913+2del | ||
| XM_011538760.2:c.2913+1_2913+2del | ||
| XM_011538761.2:c.2913+1_2913+2del | ||
| XM_011538762.3:c.2145+1_2145+2del | ||
| XM_011538763.3:c.2052+1_2052+2del | ||
| XM_011538764.3:c.2913+1_2913+2del | ||
| XM_011538765.3:c.2913+1_2913+2del | ||
| XM_011538766.3:c.1374+1_1374+2del | ||
| XM_017019980.2:c.2913+1_2913+2del | ||
| XM_017019981.2:c.2913+1_2913+2del | ||
| XM_017019982.1:c.2913+1_2913+2del | ||
| XM_017019983.2:c.2031+1_2031+2del | ||
| XR_001748869.1:n.3257+1_3257+2del | ||
| XR_001748870.2:n.3257+1_3257+2del | ||
| NM_025114.4:c.2052+1_2052+2del |