Canonical Allele Identifier: CA1969337008

Gene: MYBPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47343319_47343324delinsCAAAAG , CM000673.2:g.47343319_47343324delinsCAAAAG	GRCh38
NC_000011.9:g.47364870_47364875delinsCAAAAG , CM000673.1:g.47364870_47364875delinsCAAAAG	GRCh37
NC_000011.8:g.47321446_47321451delinsCAAAAG	NCBI36
NG_007667.1:g.14379_14384delinsCTTTTG , LRG_386:g.14379_14384delinsCTTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1224-62_1224-57delinsCTTTTG MANE Select	ENSP00000442795.1:n.1224-62_1224-57delinsCTTTTG
ENST00000256993.8:c.1223+168_1224-171delinsCTTTTG	ENSP00000256993.5:n.1223+168_1224-171delinsCTTTTG
ENST00000399249.6:c.1224-62_1224-57delinsCTTTTG	ENSP00000382193.2:n.1224-62_1224-57delinsCTTTTG
ENST00000544791.1:c.1224-62_1224-57delinsCTTTTG	ENSP00000444259.1:n.1224-62_1224-57delinsCTTTTG
ENST00000545968.5:c.1224-62_1224-57delinsCTTTTG	ENSP00000442795.1:n.1224-62_1224-57delinsCTTTTG
NM_000256.3:c.1224-62_1224-57delinsCTTTTG , LRG_386t1:c.1224-62_1224-57delinsCTTTTG MANE Select	NP_000247.2:n.1224-62_1224-57delinsCTTTTG
XM_011520117.1:c.1206-62_1206-57delinsCTTTTG	XP_011518419.1:n.1206-62_1206-57delinsCTTTTG
XM_011520118.1:c.1224-62_1224-57delinsCTTTTG	XP_011518420.1:n.1224-62_1224-57delinsCTTTTG