Linked Data
dbSNP Id:
rs1235739566
gnomAD v2:
11-126144869-AC-A
gnomAD v3:
11-126274974-AC-A
gnomAD v4:
11-126274974-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.126274975del , CM000673.2:g.126274975del | GRCh38 |
| NC_000011.9:g.126144870del , CM000673.1:g.126144870del | GRCh37 |
| NC_000011.8:g.125650080del | NCBI36 |
| NG_028029.1:g.10936del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525083.6:n.763del | ||
| ENST00000532101.6:n.734-352del | ||
| ENST00000532125.2:c.582del | ENSP00000434178.2:p.Asn194LysfsTer6 | |
| ENST00000533839.6:c.86-819del | ENSP00000509952.1:n.86-819del | |
| ENST00000534011.6:n.877del | ||
| ENST00000685484.1:c.585del | ENSP00000510622.1:p.Asn195LysfsTer6 | |
| ENST00000685601.1:c.585del | ENSP00000510603.1:p.Asn195LysfsTer6 | |
| ENST00000685765.1:c.585del | ENSP00000509991.1:p.Asn195LysfsTer6 | |
| ENST00000685844.1:c.*169-352del | ENSP00000509820.1:n.*169-352del | |
| ENST00000685857.1:n.1019del | ||
| ENST00000686242.1:c.384del | ENSP00000508950.1:n.384del | |
| ENST00000686888.1:c.*152del | ENSP00000509619.1:n.*152del | |
| ENST00000687699.1:c.709del | ENSP00000508878.1:n.709del | |
| ENST00000687786.1:n.2068-352del | ||
| ENST00000688100.1:n.1506del | ||
| ENST00000688588.1:c.585del | ENSP00000510802.1:p.Asn195LysfsTer6 | |
| ENST00000688927.1:n.2491del | ||
| ENST00000689283.1:c.*248del | ENSP00000509050.1:n.*248del | |
| ENST00000689477.1:c.*478del | ENSP00000508945.1:n.*478del | |
| ENST00000689765.1:c.*169-396del | ENSP00000509625.1:n.*169-396del | |
| ENST00000690512.1:c.*436del | ENSP00000509793.1:n.*436del | |
| ENST00000692039.1:c.*383del | ENSP00000508821.1:n.*383del | |
| ENST00000692336.1:c.609del | ENSP00000508540.1:p.Asn203LysfsTer6 | |
| ENST00000693133.1:n.760del | ||
| ENST00000263578.10:c.585del MANE Select | ENSP00000263578.5:p.Asn195LysfsTer6 | |
| ENST00000263578.9:c.585del | ENSP00000263578.5:p.Asn195LysfsTer6 | |
| ENST00000524751.5:n.521del | ||
| ENST00000525083.5:n.352-352del | ||
| ENST00000525770.5:c.*217del | ENSP00000434739.1:n.*217del | |
| ENST00000526366.5:n.516del | ||
| ENST00000527004.5:c.534-352del | ENSP00000436374.1:n.534-352del | |
| ENST00000527875.1:n.415del | ||
| ENST00000530642.1:n.1062del | ||
| ENST00000532101.5:n.808del | ||
| ENST00000532125.1:c.543del | ENSP00000434178.1:p.Asn181LysfsTer6 | |
| ENST00000533395.5:n.365-352del | ||
| ENST00000533839.5:n.238-819del | ||
| ENST00000534011.5:n.637del | ||
| ENST00000534315.5:n.944-352del | ||
| NM_017547.3:c.585del | NP_060017.1:p.Asn195LysfsTer6 | |
| NR_037647.1:n.531del | ||
| NR_037648.1:n.771del | ||
| XM_006718879.2:c.75del | XP_006718942.1:p.Asn25LysfsTer6 | |
| XM_006718880.2:c.-2-352del | XP_006718943.1:n.-2-352del | |
| XM_006718881.2:c.-2-352del | XP_006718944.1:n.-2-352del | |
| XM_011542895.1:c.75del | XP_011541197.1:p.Asn25LysfsTer6 | |
| XM_011542896.1:c.75del | XP_011541198.1:p.Asn25LysfsTer6 | |
| XM_006718879.3:c.75del | XP_006718942.1:p.Asn25LysfsTer6 | |
| XM_006718881.3:c.-2-352del | XP_006718944.1:n.-2-352del | |
| XM_011542895.2:c.75del | XP_011541197.1:p.Asn25LysfsTer6 | |
| XM_011542896.2:c.75del | XP_011541198.1:p.Asn25LysfsTer6 | |
| XM_017018000.2:c.585del | XP_016873489.1:p.Asn195LysfsTer6 | |
| XM_017018001.1:c.75del | XP_016873490.1:p.Asn25LysfsTer6 | |
| XM_017018002.1:c.75del | XP_016873491.1:p.Asn25LysfsTer6 | |
| XM_017018003.2:c.-2-352del | XP_016873492.1:n.-2-352del | |
| XM_017018004.1:c.-2-352del | XP_016873493.1:n.-2-352del | |
| XM_017018005.1:c.-2-352del | XP_016873494.1:n.-2-352del | |
| XM_017018006.2:c.-2-352del | XP_016873495.1:n.-2-352del | |
| NM_017547.4:c.585del MANE Select | NP_060017.1:p.Asn195LysfsTer6 | |
| NR_037647.2:n.417del | ||
| NR_037648.2:n.762del |