Canonical Allele Identifier: CA1139659379
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 915722
ClinVar RCV Id: RCV001170943
dbSNP Id: rs2095877635
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47332090_47332092delinsGCA , CM000673.2:g.47332090_47332092delinsGCA GRCh38
NC_000011.9:g.47353641_47353643delinsGCA , CM000673.1:g.47353641_47353643delinsGCA GRCh37
NC_000011.8:g.47310217_47310219delinsGCA NCBI36
NG_007667.1:g.25611_25613delinsTGC , LRG_386:g.25611_25613delinsTGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3794_3796delinsTGC MANE Select ENSP00000442795.1:p.Glu1265_Cys1266delinsValArg
ENST00000256993.8:c.3794_3796delinsTGC ENSP00000256993.5:p.Glu1265_Cys1266delinsValArg
ENST00000399249.6:c.3794_3796delinsTGC ENSP00000382193.2:p.Glu1265_Cys1266delinsValArg
ENST00000545968.5:c.3794_3796delinsTGC ENSP00000442795.1:p.Glu1265_Cys1266delinsValArg
NM_000256.3:c.3794_3796delinsTGC , LRG_386t1:c.3794_3796delinsTGC MANE Select NP_000247.2:p.Glu1265_Cys1266delinsValArg
XM_011520117.1:c.3776_3778delinsTGC XP_011518419.1:p.Glu1259_Cys1260delinsValArg
XM_011520118.1:c.3713_3715delinsTGC XP_011518420.1:p.Glu1238_Cys1239delinsValArg
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