Canonical Allele Identifier: CA2791331469
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47351199_47351200insCCCA , CM000673.2:g.47351199_47351200insCCCA GRCh38
NC_000011.9:g.47372750_47372751insCCCA , CM000673.1:g.47372750_47372751insCCCA GRCh37
NC_000011.8:g.47329326_47329327insCCCA NCBI36
NG_007667.1:g.6503_6504insTGGG , LRG_386:g.6503_6504insTGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.292+39_292+40insTGGG MANE Select ENSP00000442795.1:n.292+39_292+40insTGGG
ENST00000256993.8:c.292+39_292+40insTGGG ENSP00000256993.5:n.292+39_292+40insTGGG
ENST00000399249.6:c.292+39_292+40insTGGG ENSP00000382193.2:n.292+39_292+40insTGGG
ENST00000544791.1:c.292+39_292+40insTGGG ENSP00000444259.1:n.292+39_292+40insTGGG
ENST00000545968.5:c.292+39_292+40insTGGG ENSP00000442795.1:n.292+39_292+40insTGGG
NM_000256.3:c.292+39_292+40insTGGG , LRG_386t1:c.292+39_292+40insTGGG MANE Select NP_000247.2:n.292+39_292+40insTGGG
XM_011520117.1:c.292+39_292+40insTGGG XP_011518419.1:n.292+39_292+40insTGGG
XM_011520118.1:c.292+39_292+40insTGGG XP_011518420.1:n.292+39_292+40insTGGG