Canonical Allele Identifier: CA2791331433
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47351189_47351190insGGGCCCCCCCCCCCCCCCCCCCA , CM000673.2:g.47351189_47351190insGGGCCCCCCCCCCCCCCCCCCCA GRCh38
NC_000011.9:g.47372740_47372741insGGGCCCCCCCCCCCCCCCCCCCA , CM000673.1:g.47372740_47372741insGGGCCCCCCCCCCCCCCCCCCCA GRCh37
NC_000011.8:g.47329316_47329317insGGGCCCCCCCCCCCCCCCCCCCA NCBI36
NG_007667.1:g.6513_6514insTGGGGGGGGGGGGGGGGGGGCCC , LRG_386:g.6513_6514insTGGGGGGGGGGGGGGGGGGGCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.292+49_292+50insTGGGGGGGGGGGGGGGGGGGCCC MANE Select ENSP00000442795.1:n.292+49_292+50insTGGGGGGGGGGGGGGGGGGGCCC
ENST00000256993.8:c.292+49_292+50insTGGGGGGGGGGGGGGGGGGGCCC ENSP00000256993.5:n.292+49_292+50insTGGGGGGGGGGGGGGGGGGGCCC
ENST00000399249.6:c.292+49_292+50insTGGGGGGGGGGGGGGGGGGGCCC ENSP00000382193.2:n.292+49_292+50insTGGGGGGGGGGGGGGGGGGGCCC
ENST00000544791.1:c.292+49_292+50insTGGGGGGGGGGGGGGGGGGGCCC ENSP00000444259.1:n.292+49_292+50insTGGGGGGGGGGGGGGGGGGGCCC
ENST00000545968.5:c.292+49_292+50insTGGGGGGGGGGGGGGGGGGGCCC ENSP00000442795.1:n.292+49_292+50insTGGGGGGGGGGGGGGGGGGGCCC
NM_000256.3:c.292+49_292+50insTGGGGGGGGGGGGGGGGGGGCCC , LRG_386t1:c.292+49_292+50insTGGGGGGGGGGGGGGGGGGGCCC MANE Select NP_000247.2:n.292+49_292+50insTGGGGGGGGGGGGGGGGGGGCCC
XM_011520117.1:c.292+49_292+50insTGGGGGGGGGGGGGGGGGGGCCC XP_011518419.1:n.292+49_292+50insTGGGGGGGGGGGGGGGGGGGCCC
XM_011520118.1:c.292+49_292+50insTGGGGGGGGGGGGGGGGGGGCCC XP_011518420.1:n.292+49_292+50insTGGGGGGGGGGGGGGGGGGGCCC