Canonical Allele Identifier: CA10646652

Gene: DICER1

Linked Data

• ClinVar Variation Id: 315062
• ClinVar RCV Id: RCV000339720
• dbSNP Id: rs573135025
• gnomAD v2: 14-95554078-AATC-A
• gnomAD v3: 14-95087741-AATC-A
• gnomAD v4: 14-95087741-AATC-A
• MyVariant Identifiers: chr14:g.95554079_95554081del (hg19) ; chr14:g.95087742_95087744del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.95087747_95087749del , CM000676.2:g.95087747_95087749del	GRCh38
NC_000014.8:g.95554084_95554086del , CM000676.1:g.95554084_95554086del	GRCh37
NC_000014.7:g.94623837_94623839del	NCBI36
NG_016311.1:g.74679_74681del , LRG_492:g.74679_74681del

Transcript Alleles

HGVS	Amino-acid change
ENST00000529720.2:c.*2754_*2756del	ENSP00000433926.2:n.*2754_*2756del
ENST00000531162.7:c.*2754_*2756del	ENSP00000433060.3:n.*2754_*2756del
ENST00000674628.2:c.*2754_*2756del	ENSP00000502730.2:n.*2754_*2756del
ENST00000675540.2:c.*5173_*5175del	ENSP00000501988.2:n.*5173_*5175del
ENST00000696733.1:c.*3145_*3147del	ENSP00000512838.1:n.*3145_*3147del
ENST00000696734.1:c.*3178_*3180del	ENSP00000512839.1:n.*3178_*3180del
ENST00000696920.1:n.8786_8788del
ENST00000696921.1:n.9629_9631del
ENST00000696922.1:n.11454_11456del
ENST00000696923.1:c.*3178_*3180del	ENSP00000512976.1:n.*3178_*3180del
ENST00000696924.1:c.*3145_*3147del	ENSP00000512977.1:n.*3145_*3147del
ENST00000343455.8:c.*2754_*2756del MANE Select	ENSP00000343745.3:n.*2754_*2756del
ENST00000526495.6:c.*2754_*2756del	ENSP00000437256.1:n.*2754_*2756del
ENST00000675540.1:c.6268_6270del	ENSP00000501988.1:n.6268_6270del
ENST00000343455.7:c.*2754_*2756del	ENSP00000343745.3:n.*2754_*2756del
ENST00000393063.5:c.*2754_*2756del	ENSP00000376783.1:n.*2754_*2756del
ENST00000526495.5:c.*2754_*2756del	ENSP00000437256.1:n.*2754_*2756del
NM_001195573.1:c.*2870_*2872del	NP_001182502.1:n.*2870_*2872del
NM_001271282.2:c.*2754_*2756del	NP_001258211.1:n.*2754_*2756del
NM_001291628.1:c.*2754_*2756del	NP_001278557.1:n.*2754_*2756del
NM_030621.4:c.*2754_*2756del	NP_085124.2:n.*2754_*2756del
NM_177438.2:c.*2754_*2756del , LRG_492t1:c.*2754_*2756del	NP_803187.1:n.*2754_*2756del
XM_011536599.1:c.*2754_*2756del	XP_011534901.1:n.*2754_*2756del
XM_011536600.1:c.*2754_*2756del	XP_011534902.1:n.*2754_*2756del
XM_011536601.1:c.*2754_*2756del	XP_011534903.1:n.*2754_*2756del
XM_011536602.1:c.*2754_*2756del	XP_011534904.1:n.*2754_*2756del
XM_011536603.1:c.*2754_*2756del	XP_011534905.1:n.*2754_*2756del
XM_011536604.1:c.*2754_*2756del	XP_011534906.1:n.*2754_*2756del
XM_011536605.1:c.*2754_*2756del	XP_011534907.1:n.*2754_*2756del
XM_011536599.2:c.*2754_*2756del	XP_011534901.1:n.*2754_*2756del
XM_011536600.3:c.*2754_*2756del	XP_011534902.1:n.*2754_*2756del
XM_011536601.3:c.*2754_*2756del	XP_011534903.1:n.*2754_*2756del
XM_011536602.3:c.*2754_*2756del	XP_011534904.1:n.*2754_*2756del
XM_011536604.2:c.*2754_*2756del	XP_011534906.1:n.*2754_*2756del
XM_011536605.2:c.*2754_*2756del	XP_011534907.1:n.*2754_*2756del
XM_017021120.2:c.*2754_*2756del	XP_016876609.1:n.*2754_*2756del
XM_017021121.2:c.*2754_*2756del	XP_016876610.1:n.*2754_*2756del
XM_017021122.2:c.*2754_*2756del	XP_016876611.1:n.*2754_*2756del
XM_017021123.2:c.*2754_*2756del	XP_016876612.1:n.*2754_*2756del
NM_001271282.3:c.*2754_*2756del	NP_001258211.1:n.*2754_*2756del
NM_001291628.2:c.*2754_*2756del	NP_001278557.1:n.*2754_*2756del
NM_177438.3:c.*2754_*2756del MANE Select	NP_803187.1:n.*2754_*2756del
NM_001395677.1:c.*2754_*2756del	NP_001382606.1:n.*2754_*2756del
NM_001395678.1:c.*2754_*2756del	NP_001382607.1:n.*2754_*2756del
NM_001395679.1:c.*2754_*2756del	NP_001382608.1:n.*2754_*2756del
NM_001395680.1:c.*2754_*2756del	NP_001382609.1:n.*2754_*2756del
NM_001395682.1:c.*2754_*2756del	NP_001382611.1:n.*2754_*2756del
NM_001395683.1:c.*2754_*2756del	NP_001382612.1:n.*2754_*2756del
NM_001395684.1:c.*2754_*2756del	NP_001382613.1:n.*2754_*2756del
NM_001395685.1:c.*3069_*3071del	NP_001382614.1:n.*3069_*3071del
NM_001395686.1:c.*2754_*2756del	NP_001382615.1:n.*2754_*2756del
NM_001395687.1:c.*2754_*2756del	NP_001382616.1:n.*2754_*2756del
NM_001395688.1:c.*2754_*2756del	NP_001382617.1:n.*2754_*2756del
NM_001395689.1:c.*2754_*2756del	NP_001382618.1:n.*2754_*2756del
NM_001395690.1:c.*2754_*2756del	NP_001382619.1:n.*2754_*2756del
NM_001395691.1:c.*2754_*2756del	NP_001382620.1:n.*2754_*2756del
NM_001395697.1:c.*2754_*2756del	NP_001382626.1:n.*2754_*2756del
NR_172715.1:n.6333-515_6333-513del
NR_172716.1:n.9125_9127del
NR_172717.1:n.6427-515_6427-513del
NR_172718.1:n.8958_8960del
NR_172719.1:n.8791_8793del
NR_172720.1:n.8994_8996del