Canonical Allele Identifier: CA264789
Gene: KCND3 HGNC NCBI

Linked Data

ClinVar Variation Id: 66061
ClinVar RCV Id: RCV000056298 RCV001268494
dbSNP Id: rs397515475
COSMIC: COSM893893 COSM1583226
MyVariant Identifiers: chr1:g.112524667_112524669del (hg19) chr1:g.111982045_111982047del (hg38)
PubMed: PMID:12764052 PMID:23280837
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.111982050_111982052del , CM000663.2:g.111982050_111982052del GRCh38
NC_000001.10:g.112524672_112524674del , CM000663.1:g.112524672_112524674del GRCh37
NC_000001.9:g.112326195_112326197del NCBI36
NG_032011.2:g.12109_12111del , LRG_445:g.12109_12111del

Transcript Alleles

HGVS Amino-acid change
ENST00000703641.1:n.1179_1181del
ENST00000703642.1:n.985_987del
ENST00000703643.1:n.982_984del
ENST00000302127.5:c.680_682del MANE Select ENSP00000306923.4:p.Phe227del
ENST00000302127.4:c.680_682del ENSP00000306923.3:p.Phe227del
ENST00000315987.6:c.680_682del ENSP00000319591.2:p.Phe227del
ENST00000369697.5:c.680_682del ENSP00000358711.1:p.Phe227del
NM_004980.4:c.680_682del , LRG_445t1:c.680_682del NP_004971.2:p.Phe227del
NM_172198.2:c.680_682del NP_751948.1:p.Phe227del
XM_005270851.3:c.680_682del XP_005270908.1:p.Phe227del
XM_006710629.2:c.680_682del XP_006710692.1:p.Phe227del
XM_006710630.2:c.680_682del XP_006710693.1:p.Phe227del
XM_006710631.2:c.680_682del XP_006710694.1:p.Phe227del
XM_006710632.2:c.680_682del XP_006710695.1:p.Phe227del
XM_011541425.1:c.680_682del XP_011539727.1:p.Phe227del
XM_011541426.1:c.680_682del XP_011539728.1:p.Phe227del
XM_011541427.1:c.680_682del XP_011539729.1:p.Phe227del
XM_011541428.1:c.680_682del XP_011539730.1:p.Phe227del
XM_005270851.4:c.680_682del XP_005270908.1:p.Phe227del
XM_006710629.4:c.680_682del XP_006710692.1:p.Phe227del
XM_006710630.3:c.680_682del XP_006710693.1:p.Phe227del
XM_006710631.3:c.680_682del XP_006710694.1:p.Phe227del
XM_006710632.3:c.680_682del XP_006710695.1:p.Phe227del
XM_011541425.3:c.680_682del XP_011539727.1:p.Phe227del
XM_011541426.2:c.680_682del XP_011539728.1:p.Phe227del
XM_011541427.3:c.680_682del XP_011539729.1:p.Phe227del
XM_011541428.2:c.680_682del XP_011539730.1:p.Phe227del
XM_017001244.2:c.680_682del XP_016856733.1:p.Phe227del
XM_017001245.2:c.680_682del XP_016856734.1:p.Phe227del
NM_001378969.1:c.680_682del MANE Select NP_001365898.1:p.Phe227del
NM_001378970.1:c.680_682del NP_001365899.1:p.Phe227del
NM_004980.5:c.680_682del NP_004971.2:p.Phe227del
NM_172198.3:c.680_682del NP_751948.1:p.Phe227del
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