Canonical Allele Identifier: CA10635621

Gene: DICER1

Linked Data

• ClinVar Variation Id: 315078
• ClinVar RCV Id: RCV000283122
• dbSNP Id: rs35463377
• gnomAD v2: 14-95555386-C-CA
• gnomAD v3: 14-95089049-C-CA
• gnomAD v4: 14-95089049-C-CA
• COSMIC: COSN19656369 ; COSN19660619 ; COSN20111639 ; COSN20111640 ; COSN20111641
• MyVariant Identifiers: chr14:g.95555387dupA (hg19) ; chr14:g.95555387_95555388insA (hg19) ; chr14:g.95555386_95555387insA (hg19) ; chr14:g.95089050dupA (hg38) ; chr14:g.95089050_95089051insA (hg38) ; chr14:g.95089049_95089050insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.95089062dup , CM000676.2:g.95089062dup	GRCh38
NC_000014.8:g.95555399dup , CM000676.1:g.95555399dup	GRCh37
NC_000014.7:g.94625152dup	NCBI36
NG_016311.1:g.73373dup , LRG_492:g.73373dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529720.2:c.*1448dup	ENSP00000433926.2:n.*1448dup
ENST00000531162.7:c.*1448dup	ENSP00000433060.3:n.*1448dup
ENST00000674628.2:c.*1448dup	ENSP00000502730.2:n.*1448dup
ENST00000675540.2:c.*3867dup	ENSP00000501988.2:n.*3867dup
ENST00000696733.1:c.*1839dup	ENSP00000512838.1:n.*1839dup
ENST00000696734.1:c.*1872dup	ENSP00000512839.1:n.*1872dup
ENST00000696920.1:n.7480dup
ENST00000696921.1:n.8323dup
ENST00000696922.1:n.10148dup
ENST00000696923.1:c.*1872dup	ENSP00000512976.1:n.*1872dup
ENST00000696924.1:c.*1839dup	ENSP00000512977.1:n.*1839dup
ENST00000343455.8:c.*1448dup MANE Select	ENSP00000343745.3:n.*1448dup
ENST00000526495.6:c.*1448dup	ENSP00000437256.1:n.*1448dup
ENST00000675540.1:c.4962dup	ENSP00000501988.1:n.4962dup
ENST00000343455.7:c.*1448dup	ENSP00000343745.3:n.*1448dup
ENST00000393063.5:c.*1448dup	ENSP00000376783.1:n.*1448dup
ENST00000526495.5:c.*1448dup	ENSP00000437256.1:n.*1448dup
ENST00000527416.2:n.348-42dup
NM_001195573.1:c.*1564dup	NP_001182502.1:n.*1564dup
NM_001271282.2:c.*1448dup	NP_001258211.1:n.*1448dup
NM_001291628.1:c.*1448dup	NP_001278557.1:n.*1448dup
NM_030621.4:c.*1448dup	NP_085124.2:n.*1448dup
NM_177438.2:c.*1448dup , LRG_492t1:c.*1448dup	NP_803187.1:n.*1448dup
XM_011536599.1:c.*1448dup	XP_011534901.1:n.*1448dup
XM_011536600.1:c.*1448dup	XP_011534902.1:n.*1448dup
XM_011536601.1:c.*1448dup	XP_011534903.1:n.*1448dup
XM_011536602.1:c.*1448dup	XP_011534904.1:n.*1448dup
XM_011536603.1:c.*1448dup	XP_011534905.1:n.*1448dup
XM_011536604.1:c.*1448dup	XP_011534906.1:n.*1448dup
XM_011536605.1:c.*1448dup	XP_011534907.1:n.*1448dup
XM_011536599.2:c.*1448dup	XP_011534901.1:n.*1448dup
XM_011536600.3:c.*1448dup	XP_011534902.1:n.*1448dup
XM_011536601.3:c.*1448dup	XP_011534903.1:n.*1448dup
XM_011536602.3:c.*1448dup	XP_011534904.1:n.*1448dup
XM_011536604.2:c.*1448dup	XP_011534906.1:n.*1448dup
XM_011536605.2:c.*1448dup	XP_011534907.1:n.*1448dup
XM_017021120.2:c.*1448dup	XP_016876609.1:n.*1448dup
XM_017021121.2:c.*1448dup	XP_016876610.1:n.*1448dup
XM_017021122.2:c.*1448dup	XP_016876611.1:n.*1448dup
XM_017021123.2:c.*1448dup	XP_016876612.1:n.*1448dup
NM_001271282.3:c.*1448dup	NP_001258211.1:n.*1448dup
NM_001291628.2:c.*1448dup	NP_001278557.1:n.*1448dup
NM_177438.3:c.*1448dup MANE Select	NP_803187.1:n.*1448dup
NM_001395677.1:c.*1448dup	NP_001382606.1:n.*1448dup
NM_001395678.1:c.*1448dup	NP_001382607.1:n.*1448dup
NM_001395679.1:c.*1448dup	NP_001382608.1:n.*1448dup
NM_001395680.1:c.*1448dup	NP_001382609.1:n.*1448dup
NM_001395682.1:c.*1448dup	NP_001382611.1:n.*1448dup
NM_001395683.1:c.*1448dup	NP_001382612.1:n.*1448dup
NM_001395684.1:c.*1448dup	NP_001382613.1:n.*1448dup
NM_001395685.1:c.*1763dup	NP_001382614.1:n.*1763dup
NM_001395686.1:c.*1448dup	NP_001382615.1:n.*1448dup
NM_001395687.1:c.*1448dup	NP_001382616.1:n.*1448dup
NM_001395688.1:c.*1448dup	NP_001382617.1:n.*1448dup
NM_001395689.1:c.*1448dup	NP_001382618.1:n.*1448dup
NM_001395690.1:c.*1448dup	NP_001382619.1:n.*1448dup
NM_001395691.1:c.*1448dup	NP_001382620.1:n.*1448dup
NM_001395697.1:c.*1448dup	NP_001382626.1:n.*1448dup
NR_172715.1:n.6173-42dup
NR_172716.1:n.7819dup
NR_172717.1:n.6267-42dup
NR_172718.1:n.7652dup
NR_172719.1:n.7485dup
NR_172720.1:n.7688dup