Canonical Allele Identifier: CA1969334352

Gene: MYBPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47340829_47340831delinsCTG , CM000673.2:g.47340829_47340831delinsCTG	GRCh38
NC_000011.9:g.47362380_47362382delinsCTG , CM000673.1:g.47362380_47362382delinsCTG	GRCh37
NC_000011.8:g.47318956_47318958delinsCTG	NCBI36
NG_007667.1:g.16872_16874delinsCAG , LRG_386:g.16872_16874delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1927+172_1927+174delinsCAG MANE Select	ENSP00000442795.1:n.1927+172_1927+174delinsCAG
ENST00000256993.8:c.1927+172_1927+174delinsCAG	ENSP00000256993.5:n.1927+172_1927+174delinsCAG
ENST00000399249.6:c.1927+172_1927+174delinsCAG	ENSP00000382193.2:n.1927+172_1927+174delinsCAG
ENST00000544791.1:c.1927+172_1927+174delinsCAG	ENSP00000444259.1:n.1927+172_1927+174delinsCAG
ENST00000545968.5:c.1927+172_1927+174delinsCAG	ENSP00000442795.1:n.1927+172_1927+174delinsCAG
NM_000256.3:c.1927+172_1927+174delinsCAG , LRG_386t1:c.1927+172_1927+174delinsCAG MANE Select	NP_000247.2:n.1927+172_1927+174delinsCAG
XM_011520117.1:c.1909+172_1909+174delinsCAG	XP_011518419.1:n.1909+172_1909+174delinsCAG
XM_011520118.1:c.1927+172_1927+174delinsCAG	XP_011518420.1:n.1927+172_1927+174delinsCAG