Canonical Allele Identifier: CA1969337219
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47343570_47343571delinsCG , CM000673.2:g.47343570_47343571delinsCG GRCh38
NC_000011.9:g.47365121_47365122delinsCG , CM000673.1:g.47365121_47365122delinsCG GRCh37
NC_000011.8:g.47321697_47321698delinsCG NCBI36
NG_007667.1:g.14132_14133delinsCG , LRG_386:g.14132_14133delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1144_1145delinsCG MANE Select ENSP00000442795.1:p.Arg382=
ENST00000256993.8:c.1144_1145delinsCG ENSP00000256993.5:p.Arg382=
ENST00000399249.6:c.1144_1145delinsCG ENSP00000382193.2:p.Arg382=
ENST00000544791.1:c.1144_1145delinsCG ENSP00000444259.1:p.Arg382=
ENST00000545968.5:c.1144_1145delinsCG ENSP00000442795.1:p.Arg382=
NM_000256.3:c.1144_1145delinsCG , LRG_386t1:c.1144_1145delinsCG MANE Select NP_000247.2:p.Arg382=
XM_011520117.1:c.1126_1127delinsCG XP_011518419.1:p.Arg376=
XM_011520118.1:c.1144_1145delinsCG XP_011518420.1:p.Arg382=