Canonical Allele Identifier: CA2613400665

Gene: MYBPC3

Linked Data

• gnomAD v4: 11-47351182-C-CGGGGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47351182_47351183insGGGGGGGGGG , CM000673.2:g.47351182_47351183insGGGGGGGGGG	GRCh38
NC_000011.9:g.47372733_47372734insGGGGGGGGGG , CM000673.1:g.47372733_47372734insGGGGGGGGGG	GRCh37
NC_000011.8:g.47329309_47329310insGGGGGGGGGG	NCBI36
NG_007667.1:g.6520_6521insCCCCCCCCCC , LRG_386:g.6520_6521insCCCCCCCCCC

Transcript Alleles

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