Canonical Allele Identifier: CA1969336925
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47343225_47343226delinsGC , CM000673.2:g.47343225_47343226delinsGC GRCh38
NC_000011.9:g.47364776_47364777delinsGC , CM000673.1:g.47364776_47364777delinsGC GRCh37
NC_000011.8:g.47321352_47321353delinsGC NCBI36
NG_007667.1:g.14477_14478delinsGC , LRG_386:g.14477_14478delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1226+34_1226+35delinsGC MANE Select ENSP00000442795.1:n.1226+34_1226+35delinsGC
ENST00000256993.8:c.1224-78_1224-77delinsGC ENSP00000256993.5:n.1224-78_1224-77delinsGC
ENST00000399249.6:c.1226+34_1226+35delinsGC ENSP00000382193.2:n.1226+34_1226+35delinsGC
ENST00000544791.1:c.1226+34_1226+35delinsGC ENSP00000444259.1:n.1226+34_1226+35delinsGC
ENST00000545968.5:c.1226+34_1226+35delinsGC ENSP00000442795.1:n.1226+34_1226+35delinsGC
NM_000256.3:c.1226+34_1226+35delinsGC , LRG_386t1:c.1226+34_1226+35delinsGC MANE Select NP_000247.2:n.1226+34_1226+35delinsGC
XM_011520117.1:c.1208+34_1208+35delinsGC XP_011518419.1:n.1208+34_1208+35delinsGC
XM_011520118.1:c.1226+34_1226+35delinsGC XP_011518420.1:n.1226+34_1226+35delinsGC