Canonical Allele Identifier: CA2613400662

Gene: MYBPC3

Linked Data

• gnomAD v4: 11-47351182-C-CGGGGGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47351182_47351183insGGGGGGGGGGG , CM000673.2:g.47351182_47351183insGGGGGGGGGGG	GRCh38
NC_000011.9:g.47372733_47372734insGGGGGGGGGGG , CM000673.1:g.47372733_47372734insGGGGGGGGGGG	GRCh37
NC_000011.8:g.47329309_47329310insGGGGGGGGGGG	NCBI36
NG_007667.1:g.6520_6521insCCCCCCCCCCC , LRG_386:g.6520_6521insCCCCCCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.292+56_292+57insCCCCCCCCCCC MANE Select	ENSP00000442795.1:n.292+56_292+57insCCCCCCCCCCC
ENST00000256993.8:c.292+56_292+57insCCCCCCCCCCC	ENSP00000256993.5:n.292+56_292+57insCCCCCCCCCCC
ENST00000399249.6:c.292+56_292+57insCCCCCCCCCCC	ENSP00000382193.2:n.292+56_292+57insCCCCCCCCCCC
ENST00000544791.1:c.292+56_292+57insCCCCCCCCCCC	ENSP00000444259.1:n.292+56_292+57insCCCCCCCCCCC
ENST00000545968.5:c.292+56_292+57insCCCCCCCCCCC	ENSP00000442795.1:n.292+56_292+57insCCCCCCCCCCC
NM_000256.3:c.292+56_292+57insCCCCCCCCCCC , LRG_386t1:c.292+56_292+57insCCCCCCCCCCC MANE Select	NP_000247.2:n.292+56_292+57insCCCCCCCCCCC
XM_011520117.1:c.292+56_292+57insCCCCCCCCCCC	XP_011518419.1:n.292+56_292+57insCCCCCCCCCCC
XM_011520118.1:c.292+56_292+57insCCCCCCCCCCC	XP_011518420.1:n.292+56_292+57insCCCCCCCCCCC