Canonical Allele Identifier: CA2613400753

Gene: MYBPC3

Linked Data

• gnomAD v4: 11-47351186-G-GGGGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47351186_47351187insGGGGC , CM000673.2:g.47351186_47351187insGGGGC	GRCh38
NC_000011.9:g.47372737_47372738insGGGGC , CM000673.1:g.47372737_47372738insGGGGC	GRCh37
NC_000011.8:g.47329313_47329314insGGGGC	NCBI36
NG_007667.1:g.6516_6517insGCCCC , LRG_386:g.6516_6517insGCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.292+52_292+53insGCCCC MANE Select	ENSP00000442795.1:n.292+52_292+53insGCCCC
ENST00000256993.8:c.292+52_292+53insGCCCC	ENSP00000256993.5:n.292+52_292+53insGCCCC
ENST00000399249.6:c.292+52_292+53insGCCCC	ENSP00000382193.2:n.292+52_292+53insGCCCC
ENST00000544791.1:c.292+52_292+53insGCCCC	ENSP00000444259.1:n.292+52_292+53insGCCCC
ENST00000545968.5:c.292+52_292+53insGCCCC	ENSP00000442795.1:n.292+52_292+53insGCCCC
NM_000256.3:c.292+52_292+53insGCCCC , LRG_386t1:c.292+52_292+53insGCCCC MANE Select	NP_000247.2:n.292+52_292+53insGCCCC
XM_011520117.1:c.292+52_292+53insGCCCC	XP_011518419.1:n.292+52_292+53insGCCCC
XM_011520118.1:c.292+52_292+53insGCCCC	XP_011518420.1:n.292+52_292+53insGCCCC