Canonical Allele Identifier: CA1969342452
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47350994_47350995delinsGT , CM000673.2:g.47350994_47350995delinsGT GRCh38
NC_000011.9:g.47372545_47372546delinsGT , CM000673.1:g.47372545_47372546delinsGT GRCh37
NC_000011.8:g.47329121_47329122delinsGT NCBI36
NG_007667.1:g.6708_6709delinsAC , LRG_386:g.6708_6709delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.292+244_292+245delinsAC MANE Select ENSP00000442795.1:n.292+244_292+245delinsAC
ENST00000256993.8:c.292+244_292+245delinsAC ENSP00000256993.5:n.292+244_292+245delinsAC
ENST00000399249.6:c.292+244_292+245delinsAC ENSP00000382193.2:n.292+244_292+245delinsAC
ENST00000544791.1:c.292+244_292+245delinsAC ENSP00000444259.1:n.292+244_292+245delinsAC
ENST00000545968.5:c.292+244_292+245delinsAC ENSP00000442795.1:n.292+244_292+245delinsAC
NM_000256.3:c.292+244_292+245delinsAC , LRG_386t1:c.292+244_292+245delinsAC MANE Select NP_000247.2:n.292+244_292+245delinsAC
XM_011520117.1:c.292+244_292+245delinsAC XP_011518419.1:n.292+244_292+245delinsAC
XM_011520118.1:c.292+244_292+245delinsAC XP_011518420.1:n.292+244_292+245delinsAC