Canonical Allele Identifier: CA1969336148
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47342809_47342810delinsCC , CM000673.2:g.47342809_47342810delinsCC GRCh38
NC_000011.9:g.47364360_47364361delinsCC , CM000673.1:g.47364360_47364361delinsCC GRCh37
NC_000011.8:g.47320936_47320937delinsCC NCBI36
NG_007667.1:g.14893_14894delinsGG , LRG_386:g.14893_14894delinsGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1457+20_1457+21delinsGG MANE Select ENSP00000442795.1:n.1457+20_1457+21delinsGG
ENST00000256993.8:c.1457+20_1457+21delinsGG ENSP00000256993.5:n.1457+20_1457+21delinsGG
ENST00000399249.6:c.1457+20_1457+21delinsGG ENSP00000382193.2:n.1457+20_1457+21delinsGG
ENST00000544791.1:c.1457+20_1457+21delinsGG ENSP00000444259.1:n.1457+20_1457+21delinsGG
ENST00000545968.5:c.1457+20_1457+21delinsGG ENSP00000442795.1:n.1457+20_1457+21delinsGG
NM_000256.3:c.1457+20_1457+21delinsGG , LRG_386t1:c.1457+20_1457+21delinsGG MANE Select NP_000247.2:n.1457+20_1457+21delinsGG
XM_011520117.1:c.1439+20_1439+21delinsGG XP_011518419.1:n.1439+20_1439+21delinsGG
XM_011520118.1:c.1457+20_1457+21delinsGG XP_011518420.1:n.1457+20_1457+21delinsGG