Canonical Allele Identifier: CA937668506

Gene: MYBPC3

Linked Data

• gnomAD v3: 11-47337354-A-AGGGGGGGG
• gnomAD v4: 11-47337354-A-AGGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337359_47337360insGGGGGGGG , CM000673.2:g.47337359_47337360insGGGGGGGG	GRCh38
NC_000011.9:g.47358910_47358911insGGGGGGGG , CM000673.1:g.47358910_47358911insGGGGGGGG	GRCh37
NC_000011.8:g.47315486_47315487insGGGGGGGG	NCBI36
NG_007667.1:g.20348_20349insCCCCCCCC , LRG_386:g.20348_20349insCCCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2602+36_2602+37insCCCCCCCC MANE Select	ENSP00000442795.1:n.2602+36_2602+37insCCCCCCCC
ENST00000256993.8:c.2602+36_2602+37insCCCCCCCC	ENSP00000256993.5:n.2602+36_2602+37insCCCCCCCC
ENST00000399249.6:c.2602+36_2602+37insCCCCCCCC	ENSP00000382193.2:n.2602+36_2602+37insCCCCCCCC
ENST00000544791.1:c.*107+36_*107+37insCCCCCCCC	ENSP00000444259.1:n.*107+36_*107+37insCCCCCCCC
ENST00000545968.5:c.2602+36_2602+37insCCCCCCCC	ENSP00000442795.1:n.2602+36_2602+37insCCCCCCCC
NM_000256.3:c.2602+36_2602+37insCCCCCCCC , LRG_386t1:c.2602+36_2602+37insCCCCCCCC MANE Select	NP_000247.2:n.2602+36_2602+37insCCCCCCCC
XM_011520117.1:c.2584+36_2584+37insCCCCCCCC	XP_011518419.1:n.2584+36_2584+37insCCCCCCCC
XM_011520118.1:c.2521+36_2521+37insCCCCCCCC	XP_011518420.1:n.2521+36_2521+37insCCCCCCCC