Canonical Allele Identifier: CA2613406569

Gene: MYBPC3

Linked Data

• gnomAD v4: 11-47343469-C-CCCCCCCCCCCCCCCCGCAGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47343472_47343473insCCCCCCCCCCCCGCAGGACCC , CM000673.2:g.47343472_47343473insCCCCCCCCCCCCGCAGGACCC	GRCh38
NC_000011.9:g.47365023_47365024insCCCCCCCCCCCCGCAGGACCC , CM000673.1:g.47365023_47365024insCCCCCCCCCCCCGCAGGACCC	GRCh37
NC_000011.8:g.47321599_47321600insCCCCCCCCCCCCGCAGGACCC	NCBI36
NG_007667.1:g.14233_14234insTCCTGCGGGGGGGGGGGGGGG , LRG_386:g.14233_14234insTCCTGCGGGGGGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1223+22_1223+23insTCCTGCGGGGGGGGGGGGGGG MANE Select	ENSP00000442795.1:n.1223+22_1223+23insTCCTGCGGGGGGGGGGGGGGG
ENST00000256993.8:c.1223+22_1223+23insTCCTGCGGGGGGGGGGGGGGG	ENSP00000256993.5:n.1223+22_1223+23insTCCTGCGGGGGGGGGGGGGGG
ENST00000399249.6:c.1223+22_1223+23insTCCTGCGGGGGGGGGGGGGGG	ENSP00000382193.2:n.1223+22_1223+23insTCCTGCGGGGGGGGGGGGGGG
ENST00000544791.1:c.1223+22_1223+23insTCCTGCGGGGGGGGGGGGGGG	ENSP00000444259.1:n.1223+22_1223+23insTCCTGCGGGGGGGGGGGGGGG
ENST00000545968.5:c.1223+22_1223+23insTCCTGCGGGGGGGGGGGGGGG	ENSP00000442795.1:n.1223+22_1223+23insTCCTGCGGGGGGGGGGGGGGG
NM_000256.3:c.1223+22_1223+23insTCCTGCGGGGGGGGGGGGGGG , LRG_386t1:c.1223+22_1223+23insTCCTGCGGGGGGGGGGGGGGG MANE Select	NP_000247.2:n.1223+22_1223+23insTCCTGCGGGGGGGGGGGGGGG
XM_011520117.1:c.1205+22_1205+23insTCCTGCGGGGGGGGGGGGGGG	XP_011518419.1:n.1205+22_1205+23insTCCTGCGGGGGGGGGGGGGGG
XM_011520118.1:c.1223+22_1223+23insTCCTGCGGGGGGGGGGGGGGG	XP_011518420.1:n.1223+22_1223+23insTCCTGCGGGGGGGGGGGGGGG