Linked Data
dbSNP Id:
rs767832726
ExAC:
9:140671321 GC / G
gnomAD v2:
9-140671321-GC-G
gnomAD v3:
9-137776869-GC-G
gnomAD v4:
9-137776869-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137776870del , CM000671.2:g.137776870del | GRCh38 |
| NC_000009.11:g.140671322del , CM000671.1:g.140671322del | GRCh37 |
| NC_000009.10:g.139791143del | NCBI36 |
| NG_011776.1:g.162879del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.2018+26del MANE Select | ENSP00000417980.1:n.2018+26del | |
| ENST00000636027.1:c.1904+26del | ENSP00000489961.1:n.1904+26del | |
| ENST00000637161.1:c.1925+26del | ENSP00000490328.1:n.1925+26del | |
| ENST00000637261.1:c.2058+26del | ENSP00000490815.1:n.2058+26del | |
| ENST00000638071.1:c.1645+26del | ||
| ENST00000371394.6:c.*1753+26del | ENSP00000485945.1:n.*1753+26del | |
| ENST00000460843.5:c.2018+26del | ENSP00000417980.1:n.2018+26del | |
| ENST00000462484.5:c.2018+26del | ENSP00000417328.1:n.2018+26del | |
| ENST00000462942.3:c.875+26del | ENSP00000436107.1:n.875+26del | |
| ENST00000626603.1:n.1579del | ||
| NM_001145527.1:c.2018+26del | NP_001138999.1:n.2018+26del | |
| NM_024757.4:c.2018+26del | NP_079033.4:n.2018+26del | |
| XM_005266105.3:c.2009+26del | XP_005266162.1:n.2009+26del | |
| XM_005266110.1:c.1925+26del | XP_005266167.1:n.1925+26del | |
| XM_006717288.2:c.2000+26del | XP_006717351.1:n.2000+26del | |
| XM_011519021.1:c.2027+26del | XP_011517323.1:n.2027+26del | |
| XM_011519022.1:c.2024+26del | XP_011517324.1:n.2024+26del | |
| XM_011519023.1:c.2006+26del | XP_011517325.1:n.2006+26del | |
| XM_011519024.1:c.1949+26del | XP_011517326.1:n.1949+26del | |
| XM_011519025.1:c.1925+26del | XP_011517327.1:n.1925+26del | |
| XM_011519026.1:c.1883+26del | XP_011517328.1:n.1883+26del | |
| XM_011519027.1:c.2027+26del | XP_011517329.1:n.2027+26del | |
| XM_011519028.1:c.2027+26del | XP_011517330.1:n.2027+26del | |
| XM_011519029.1:c.449+26del | XP_011517331.1:n.449+26del | |
| XM_011519033.1:c.1862+26del | XP_011517335.1:n.1862+26del | |
| NM_001354259.1:c.1925+26del | NP_001341188.1:n.1925+26del | |
| NM_001354263.1:c.1997+26del | NP_001341192.1:n.1997+26del | |
| XM_005266105.5:c.2009+26del | XP_005266162.1:n.2009+26del | |
| XM_011519021.3:c.2027+26del | XP_011517323.1:n.2027+26del | |
| XM_011519022.3:c.2024+26del | XP_011517324.1:n.2024+26del | |
| XM_011519023.3:c.2006+26del | XP_011517325.1:n.2006+26del | |
| XM_011519029.3:c.449+26del | XP_011517331.1:n.449+26del | |
| XM_017015134.1:c.2003+26del | XP_016870623.1:n.2003+26del | |
| XM_017015136.2:c.1919+26del | XP_016870625.1:n.1919+26del | |
| XM_017015137.1:c.1904+26del | XP_016870626.1:n.1904+26del | |
| XM_017015138.1:c.1904+26del | XP_016870627.1:n.1904+26del | |
| XM_024447674.1:c.1847+26del | XP_024303442.1:n.1847+26del | |
| XM_024447675.1:c.1781+26del | XP_024303443.1:n.1781+26del | |
| XM_024447676.1:c.1142+26del | XP_024303444.1:n.1142+26del | |
| XM_024447677.1:c.1142+26del | XP_024303445.1:n.1142+26del | |
| XM_024447678.1:c.1925+26del | XP_024303446.1:n.1925+26del | |
| XM_024447679.1:c.1925+26del | XP_024303447.1:n.1925+26del | |
| XM_024447680.1:c.1760+26del | XP_024303448.1:n.1760+26del | |
| NM_024757.5:c.2018+26del MANE Select | NP_079033.4:n.2018+26del | |
| NM_001145527.2:c.2018+26del | NP_001138999.1:n.2018+26del | |
| NM_001354259.2:c.1925+26del | NP_001341188.1:n.1925+26del | |
| NM_001354263.2:c.1997+26del | NP_001341192.1:n.1997+26del |