Canonical Allele Identifier: CA2580610802

Gene: MYBPC3

Linked Data

• gnomAD v4: 11-47351189-G-GGGGCCCCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47351189_47351190insGGGCCCCCCCCC , CM000673.2:g.47351189_47351190insGGGCCCCCCCCC	GRCh38
NC_000011.9:g.47372740_47372741insGGGCCCCCCCCC , CM000673.1:g.47372740_47372741insGGGCCCCCCCCC	GRCh37
NC_000011.8:g.47329316_47329317insGGGCCCCCCCCC	NCBI36
NG_007667.1:g.6513_6514insGGGGGGGGGCCC , LRG_386:g.6513_6514insGGGGGGGGGCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.292+49_292+50insGGGGGGGGGCCC MANE Select	ENSP00000442795.1:n.292+49_292+50insGGGGGGGGGCCC
ENST00000256993.8:c.292+49_292+50insGGGGGGGGGCCC	ENSP00000256993.5:n.292+49_292+50insGGGGGGGGGCCC
ENST00000399249.6:c.292+49_292+50insGGGGGGGGGCCC	ENSP00000382193.2:n.292+49_292+50insGGGGGGGGGCCC
ENST00000544791.1:c.292+49_292+50insGGGGGGGGGCCC	ENSP00000444259.1:n.292+49_292+50insGGGGGGGGGCCC
ENST00000545968.5:c.292+49_292+50insGGGGGGGGGCCC	ENSP00000442795.1:n.292+49_292+50insGGGGGGGGGCCC
NM_000256.3:c.292+49_292+50insGGGGGGGGGCCC , LRG_386t1:c.292+49_292+50insGGGGGGGGGCCC MANE Select	NP_000247.2:n.292+49_292+50insGGGGGGGGGCCC
XM_011520117.1:c.292+49_292+50insGGGGGGGGGCCC	XP_011518419.1:n.292+49_292+50insGGGGGGGGGCCC
XM_011520118.1:c.292+49_292+50insGGGGGGGGGCCC	XP_011518420.1:n.292+49_292+50insGGGGGGGGGCCC