Linked Data
dbSNP Id:
rs750093123
ExAC:
20:3650041 ATGT / A
gnomAD v2:
20-3650041-ATGT-A
gnomAD v3:
20-3669394-ATGT-A
gnomAD v4:
20-3669394-ATGT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3669398_3669400del , CM000682.2:g.3669398_3669400del | GRCh38 |
| NC_000020.10:g.3650045_3650047del , CM000682.1:g.3650045_3650047del | GRCh37 |
| NC_000020.9:g.3598045_3598047del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356518.7:c.2333-27_2333-25del MANE Select | ENSP00000348912.3:n.2333-27_2333-25del | |
| ENST00000350009.6:c.2255-27_2255-25del | ENSP00000322550.5:n.2255-27_2255-25del | |
| ENST00000356518.6:c.2333-27_2333-25del | ENSP00000348912.2:n.2333-27_2333-25del | |
| ENST00000379861.8:c.2333-27_2333-25del | ENSP00000369190.4:n.2333-27_2333-25del | |
| ENST00000466620.5:n.1894-27_1894-25del | ||
| ENST00000483362.1:n.1229_1231del | ||
| ENST00000617732.1:c.*1020-27_*1020-25del | ENSP00000483343.1:n.*1020-27_*1020-25del | |
| ENST00000619289.4:c.1973-27_1973-25del | ENSP00000484600.1:n.1973-27_1973-25del | |
| NM_001282447.1:c.2333-27_2333-25del | NP_001269376.1:n.2333-27_2333-25del | |
| NM_025220.3:c.2333-27_2333-25del | NP_079496.1:n.2333-27_2333-25del | |
| NM_153202.2:c.2255-27_2255-25del | NP_694882.1:n.2255-27_2255-25del | |
| XM_005260843.1:c.2372-27_2372-25del | XP_005260900.1:n.2372-27_2372-25del | |
| XM_006723639.1:c.2372-27_2372-25del | XP_006723702.1:n.2372-27_2372-25del | |
| XM_006723640.1:c.2363-27_2363-25del | XP_006723703.1:n.2363-27_2363-25del | |
| XM_011529366.1:c.2369-27_2369-25del | XP_011527668.1:n.2369-27_2369-25del | |
| XM_011529367.1:c.2330-27_2330-25del | XP_011527669.1:n.2330-27_2330-25del | |
| XM_011529368.1:c.2294-27_2294-25del | XP_011527670.1:n.2294-27_2294-25del | |
| XM_011529373.1:c.1370-27_1370-25del | XP_011527675.1:n.1370-27_1370-25del | |
| XR_937151.1:n.2384-27_2384-25del | ||
| XR_937152.1:n.2384-27_2384-25del | ||
| XR_937153.1:n.2357-27_2357-25del | ||
| XR_937154.1:n.2357-27_2357-25del | ||
| XR_937155.1:n.2278-27_2278-25del | ||
| XR_937157.1:n.2280-27_2280-25del | ||
| NM_001282447.2:c.2333-27_2333-25del | NP_001269376.1:n.2333-27_2333-25del | |
| NM_025220.4:c.2333-27_2333-25del | NP_079496.1:n.2333-27_2333-25del | |
| NM_153202.3:c.2255-27_2255-25del | NP_694882.1:n.2255-27_2255-25del | |
| XM_011529373.2:c.1370-27_1370-25del | XP_011527675.1:n.1370-27_1370-25del | |
| XR_001754405.1:n.2444-27_2444-25del | ||
| XR_002958534.1:n.2553-27_2553-25del | ||
| NM_001282447.3:c.2333-27_2333-25del | NP_001269376.1:n.2333-27_2333-25del | |
| NM_025220.5:c.2333-27_2333-25del MANE Select | NP_079496.1:n.2333-27_2333-25del | |
| NM_153202.4:c.2255-27_2255-25del | NP_694882.1:n.2255-27_2255-25del |