Linked Data
dbSNP Id:
rs746976379
ExAC:
1:237015988 AG / A
gnomAD v2:
1-237015988-AG-A
gnomAD v4:
1-236852688-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236852692del , CM000663.2:g.236852692del | GRCh38 |
| NC_000001.10:g.237015992del , CM000663.1:g.237015992del | GRCh37 |
| NC_000001.9:g.235082615del | NCBI36 |
| NG_008959.1:g.62412del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366577.10:c.1812+55del MANE Select | ENSP00000355536.5:n.1812+55del | |
| ENST00000535889.6:c.1812+55del | ENSP00000441845.1:n.1812+55del | |
| ENST00000650888.1:c.*854+55del | ENSP00000498393.1:n.*854+55del | |
| ENST00000651455.1:c.*556+55del | ENSP00000498963.1:n.*556+55del | |
| ENST00000674797.2:c.1464+55del | ENSP00000502299.2:n.1464+55del | |
| ENST00000679569.1:n.2126+55del | ||
| ENST00000679842.1:c.1812+55del | ENSP00000506109.1:n.1812+55del | |
| ENST00000680454.1:n.2256+55del | ||
| ENST00000681102.1:c.1632+55del | ENSP00000505600.1:n.1632+55del | |
| ENST00000681177.1:c.1516-7141del | ENSP00000506327.1:n.1516-7141del | |
| ENST00000681937.1:n.2148-7141del | ||
| ENST00000366576.3:c.474+55del | ENSP00000355535.3:n.474+55del | |
| ENST00000366577.9:c.1812+55del | ENSP00000355536.5:n.1812+55del | |
| ENST00000463959.1:n.1831+55del | ||
| ENST00000535889.5:c.1812+55del | ENSP00000441845.1:n.1812+55del | |
| NM_000254.2:c.1812+55del | NP_000245.2:n.1812+55del | |
| NM_001291939.1:c.1812+55del | NP_001278868.1:n.1812+55del | |
| NM_001291940.1:c.591+55del | NP_001278869.1:n.591+55del | |
| XM_005273141.3:c.1809+55del | XP_005273198.1:n.1809+55del | |
| XM_006711769.2:c.1812+55del | XP_006711832.1:n.1812+55del | |
| XM_006711770.1:c.876+55del | XP_006711833.1:n.876+55del | |
| XM_011544193.1:c.1812+55del | XP_011542495.1:n.1812+55del | |
| XM_011544194.1:c.1980+55del | XP_011542496.1:n.1980+55del | |
| XM_005273141.5:c.1809+55del | XP_005273198.1:n.1809+55del | |
| XM_006711770.3:c.876+55del | XP_006711833.1:n.876+55del | |
| XM_011544194.3:c.1980+55del | XP_011542496.1:n.1980+55del | |
| XM_017001329.2:c.1980+55del | XP_016856818.1:n.1980+55del | |
| XM_017001330.2:c.1980+55del | XP_016856819.1:n.1980+55del | |
| NM_001291940.2:c.591+55del | NP_001278869.1:n.591+55del | |
| NM_000254.3:c.1812+55del MANE Select | NP_000245.2:n.1812+55del |