Canonical Allele Identifier: CA2613401022

Gene: MYBPC3

Linked Data

• gnomAD v4: 11-47351189-G-GCCCCACCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47351193_47351194insACCCCCCCCC , CM000673.2:g.47351193_47351194insACCCCCCCCC	GRCh38
NC_000011.9:g.47372744_47372745insACCCCCCCCC , CM000673.1:g.47372744_47372745insACCCCCCCCC	GRCh37
NC_000011.8:g.47329320_47329321insACCCCCCCCC	NCBI36
NG_007667.1:g.6513_6514insGGGGGTGGGG , LRG_386:g.6513_6514insGGGGGTGGGG

Transcript Alleles

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