Canonical Allele Identifier: CA1139663686
Community Standard Title: NM_177438.3(DICER1):c.5427_5428delinsTT (p.Asp1810Tyr)
Gene: DICER1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.95091302_95091303delinsAA , CM000676.2:g.95091302_95091303delinsAA GRCh38
NC_000014.8:g.95557639_95557640delinsAA , CM000676.1:g.95557639_95557640delinsAA GRCh37
NC_000014.7:g.94627392_94627393delinsAA NCBI36
NG_016311.1:g.71120_71121delinsTT , LRG_492:g.71120_71121delinsTT

Transcript Alleles

HGVS Amino-acid Change
NM_177438.3:c.5427_5428delinsTT MANE Select NP_803187.1:p.Asp1810Tyr
ENST00000343455.8:c.5427_5428delinsTT MANE Select ENSP00000343745.3:p.Asp1810Tyr
NM_001195573.1:c.5365-194_5365-193delinsTT NP_001182502.1:n.5365-194_5365-193delinsTT
NM_001271282.2:c.5427_5428delinsTT NP_001258211.1:p.Asp1810Tyr
NM_001271282.3:c.5427_5428delinsTT NP_001258211.1:p.Asp1810Tyr
NM_001291628.1:c.5427_5428delinsTT NP_001278557.1:p.Asp1810Tyr
NM_001291628.2:c.5427_5428delinsTT NP_001278557.1:p.Asp1810Tyr
NM_001395677.1:c.5427_5428delinsTT NP_001382606.1:p.Asp1810Tyr
NM_001395678.1:c.5427_5428delinsTT NP_001382607.1:p.Asp1810Tyr
NM_001395679.1:c.5427_5428delinsTT NP_001382608.1:p.Asp1810Tyr
NM_001395680.1:c.5427_5428delinsTT NP_001382609.1:p.Asp1810Tyr
NM_001395682.1:c.5427_5428delinsTT NP_001382611.1:p.Asp1810Tyr
NM_001395683.1:c.5427_5428delinsTT NP_001382612.1:p.Asp1810Tyr
NM_001395684.1:c.5427_5428delinsTT NP_001382613.1:p.Asp1810Tyr
NM_001395685.1:c.5427_5428delinsTT NP_001382614.1:p.Asp1810Tyr
NM_001395686.1:c.5145_5146delinsTT NP_001382615.1:p.Asp1716Tyr
NM_001395687.1:c.5022_5023delinsTT NP_001382616.1:p.Asp1675Tyr
NM_001395688.1:c.5022_5023delinsTT NP_001382617.1:p.Asp1675Tyr
NM_001395689.1:c.5022_5023delinsTT NP_001382618.1:p.Asp1675Tyr
NM_001395690.1:c.5022_5023delinsTT NP_001382619.1:p.Asp1675Tyr
NM_001395691.1:c.4860_4861delinsTT NP_001382620.1:p.Asp1621Tyr
NM_001395697.1:c.3744_3745delinsTT NP_001382626.1:p.Asp1249Tyr
NM_030621.4:c.5427_5428delinsTT NP_085124.2:p.Asp1810Tyr
NM_177438.2:c.5427_5428delinsTT , LRG_492t1:c.5427_5428delinsTT NP_803187.1:p.Asp1810Tyr
NR_172715.1:n.5845_5846delinsTT
NR_172716.1:n.6029_6030delinsTT
NR_172717.1:n.5939_5940delinsTT
NR_172718.1:n.5862_5863delinsTT
NR_172719.1:n.5695_5696delinsTT
NR_172720.1:n.5898_5899delinsTT
ENST00000343455.7:c.5427_5428delinsTT ENSP00000343745.3:p.Asp1810Tyr
ENST00000393063.5:c.5427_5428delinsTT ENSP00000376783.1:p.Asp1810Tyr
ENST00000393063.6:c.5427_5428delinsTT ENSP00000376783.1:p.Asp1810Tyr
ENST00000526495.5:c.5427_5428delinsTT ENSP00000437256.1:p.Asp1810Tyr
ENST00000526495.6:c.5427_5428delinsTT ENSP00000437256.1:p.Asp1810Tyr
ENST00000527414.5:c.5427_5428delinsTT ENSP00000435681.1:p.Asp1810Tyr
ENST00000527416.2:n.20_21delinsTT
ENST00000527554.2:n.120_121delinsTT
ENST00000529720.2:c.5427_5428delinsTT ENSP00000433926.2:p.Asp1810Tyr
ENST00000531162.7:c.5427_5428delinsTT ENSP00000433060.3:p.Asp1810Tyr
ENST00000541352.5:c.5365-194_5365-193delinsTT ENSP00000444719.1:n.5365-194_5365-193delinsTT
ENST00000556045.5:c.2121_2122delinsTT ENSP00000451041.1:p.Asp708Tyr
ENST00000556045.6:c.*144_*145delinsTT ENSP00000451041.2:n.*144_*145delinsTT
ENST00000674628.2:c.5427_5428delinsTT ENSP00000502730.2:p.Asp1810Tyr
ENST00000675540.1:c.3172_3173delinsTT ENSP00000501988.1:n.3172_3173delinsTT
ENST00000675540.2:c.*2077_*2078delinsTT ENSP00000501988.2:n.*2077_*2078delinsTT
ENST00000675995.1:c.*3743_*3744delinsTT ENSP00000502591.1:n.*3743_*3744delinsTT
ENST00000696733.1:c.*49_*50delinsTT ENSP00000512838.1:n.*49_*50delinsTT
ENST00000696734.1:c.*82_*83delinsTT ENSP00000512839.1:n.*82_*83delinsTT
ENST00000696735.1:n.2414_2415delinsTT
ENST00000696736.1:c.5427_5428delinsTT ENSP00000512840.1:p.Asp1810Tyr
ENST00000696920.1:n.5690_5691delinsTT
ENST00000696921.1:n.6533_6534delinsTT
ENST00000696922.1:n.8358_8359delinsTT
ENST00000696923.1:c.*82_*83delinsTT ENSP00000512976.1:n.*82_*83delinsTT
ENST00000696924.1:c.*49_*50delinsTT ENSP00000512977.1:n.*49_*50delinsTT
ENST00000696925.1:n.8358_8359delinsTT
XM_011536599.1:c.5427_5428delinsTT XP_011534901.1:p.Asp1810Tyr
XM_011536599.2:c.5427_5428delinsTT XP_011534901.1:p.Asp1810Tyr
XM_011536600.1:c.5427_5428delinsTT XP_011534902.1:p.Asp1810Tyr
XM_011536600.3:c.5427_5428delinsTT XP_011534902.1:p.Asp1810Tyr
XM_011536601.1:c.5427_5428delinsTT XP_011534903.1:p.Asp1810Tyr
XM_011536601.3:c.5427_5428delinsTT XP_011534903.1:p.Asp1810Tyr
XM_011536602.1:c.5427_5428delinsTT XP_011534904.1:p.Asp1810Tyr
XM_011536602.3:c.5427_5428delinsTT XP_011534904.1:p.Asp1810Tyr
XM_011536603.1:c.5427_5428delinsTT XP_011534905.1:p.Asp1810Tyr
XM_011536604.1:c.5022_5023delinsTT XP_011534906.1:p.Asp1675Tyr
XM_011536604.2:c.5022_5023delinsTT XP_011534906.1:p.Asp1675Tyr
XM_011536605.1:c.3948_3949delinsTT XP_011534907.1:p.Asp1317Tyr
XM_011536605.2:c.3948_3949delinsTT XP_011534907.1:p.Asp1317Tyr
XM_017021120.2:c.5427_5428delinsTT XP_016876609.1:p.Asp1810Tyr
XM_017021121.2:c.5427_5428delinsTT XP_016876610.1:p.Asp1810Tyr
XM_017021122.2:c.5022_5023delinsTT XP_016876611.1:p.Asp1675Tyr
XM_017021123.2:c.5022_5023delinsTT XP_016876612.1:p.Asp1675Tyr