Canonical Allele Identifier: CA1969336960
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47343266_47343267delinsTA , CM000673.2:g.47343266_47343267delinsTA GRCh38
NC_000011.9:g.47364817_47364818delinsTA , CM000673.1:g.47364817_47364818delinsTA GRCh37
NC_000011.8:g.47321393_47321394delinsTA NCBI36
NG_007667.1:g.14436_14437delinsTA , LRG_386:g.14436_14437delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1224-5_1224-4delinsTA MANE Select ENSP00000442795.1:n.1224-5_1224-4delinsTA
ENST00000256993.8:c.1224-119_1224-118delinsTA ENSP00000256993.5:n.1224-119_1224-118delinsTA
ENST00000399249.6:c.1224-5_1224-4delinsTA ENSP00000382193.2:n.1224-5_1224-4delinsTA
ENST00000544791.1:c.1224-5_1224-4delinsTA ENSP00000444259.1:n.1224-5_1224-4delinsTA
ENST00000545968.5:c.1224-5_1224-4delinsTA ENSP00000442795.1:n.1224-5_1224-4delinsTA
NM_000256.3:c.1224-5_1224-4delinsTA , LRG_386t1:c.1224-5_1224-4delinsTA MANE Select NP_000247.2:n.1224-5_1224-4delinsTA
XM_011520117.1:c.1206-5_1206-4delinsTA XP_011518419.1:n.1206-5_1206-4delinsTA
XM_011520118.1:c.1224-5_1224-4delinsTA XP_011518420.1:n.1224-5_1224-4delinsTA