Canonical Allele Identifier: CA1969335702

Gene: MYBPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47342432_47342435delinsTGAG , CM000673.2:g.47342432_47342435delinsTGAG	GRCh38
NC_000011.9:g.47363983_47363986delinsTGAG , CM000673.1:g.47363983_47363986delinsTGAG	GRCh37
NC_000011.8:g.47320559_47320562delinsTGAG	NCBI36
NG_007667.1:g.15268_15271delinsCTCA , LRG_386:g.15268_15271delinsCTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1624+143_1624+146delinsCTCA MANE Select	ENSP00000442795.1:n.1624+143_1624+146delinsCTCA
ENST00000256993.8:c.1624+143_1624+146delinsCTCA	ENSP00000256993.5:n.1624+143_1624+146delinsCTCA
ENST00000399249.6:c.1624+143_1624+146delinsCTCA	ENSP00000382193.2:n.1624+143_1624+146delinsCTCA
ENST00000544791.1:c.1624+143_1624+146delinsCTCA	ENSP00000444259.1:n.1624+143_1624+146delinsCTCA
ENST00000545968.5:c.1624+143_1624+146delinsCTCA	ENSP00000442795.1:n.1624+143_1624+146delinsCTCA
NM_000256.3:c.1624+143_1624+146delinsCTCA , LRG_386t1:c.1624+143_1624+146delinsCTCA MANE Select	NP_000247.2:n.1624+143_1624+146delinsCTCA
XM_011520117.1:c.1606+143_1606+146delinsCTCA	XP_011518419.1:n.1606+143_1606+146delinsCTCA
XM_011520118.1:c.1624+143_1624+146delinsCTCA	XP_011518420.1:n.1624+143_1624+146delinsCTCA