Canonical Allele Identifier: CA1969340269

Gene: MYBPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337541_47337542delinsAC , CM000673.2:g.47337541_47337542delinsAC	GRCh38
NC_000011.9:g.47359092_47359093delinsAC , CM000673.1:g.47359092_47359093delinsAC	GRCh37
NC_000011.8:g.47315668_47315669delinsAC	NCBI36
NG_007667.1:g.20161_20162delinsGT , LRG_386:g.20161_20162delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2451_2452delinsGT MANE Select	ENSP00000442795.1:p.Arg817=
ENST00000256993.8:c.2451_2452delinsGT	ENSP00000256993.5:p.Arg817=
ENST00000399249.6:c.2451_2452delinsGT	ENSP00000382193.2:p.Arg817=
ENST00000544791.1:c.2414-31_2414-30delinsGT	ENSP00000444259.1:n.2414-31_2414-30delinsGT
ENST00000545968.5:c.2451_2452delinsGT	ENSP00000442795.1:p.Arg817=
NM_000256.3:c.2451_2452delinsGT , LRG_386t1:c.2451_2452delinsGT MANE Select	NP_000247.2:p.Arg817=
XM_011520117.1:c.2433_2434delinsGT	XP_011518419.1:p.Arg811=
XM_011520118.1:c.2370_2371delinsGT	XP_011518420.1:p.Arg790=