Canonical Allele Identifier: CA677014628

Gene: MYBPC3

Linked Data

• dbSNP Id: rs1254979637
• gnomAD v3: 11-47333143-T-TCTGCCGGGCCTAGGC
• gnomAD v4: 11-47333143-T-TCTGCCGGGCCTAGGC
• MyVariant Identifiers: chr11:g.47354694_47354695insCTGCCGGGCCTAGGC (hg19) ; chr11:g.47333143_47333144insCTGCCGGGCCTAGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47333144_47333158dup , CM000673.2:g.47333144_47333158dup	GRCh38
NC_000011.9:g.47354695_47354709dup , CM000673.1:g.47354695_47354709dup	GRCh37
NC_000011.8:g.47311271_47311285dup	NCBI36
NG_007667.1:g.24545_24559dup , LRG_386:g.24545_24559dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.3330+36_3330+50dup MANE Select	ENSP00000442795.1:n.3330+36_3330+50dup
ENST00000256993.8:c.3330+36_3330+50dup	ENSP00000256993.5:n.3330+36_3330+50dup
ENST00000399249.6:c.3330+36_3330+50dup	ENSP00000382193.2:n.3330+36_3330+50dup
ENST00000545968.5:c.3330+36_3330+50dup	ENSP00000442795.1:n.3330+36_3330+50dup
NM_000256.3:c.3330+36_3330+50dup , LRG_386t1:c.3330+36_3330+50dup MANE Select	NP_000247.2:n.3330+36_3330+50dup
XM_011520117.1:c.3312+36_3312+50dup	XP_011518419.1:n.3312+36_3312+50dup
XM_011520118.1:c.3249+36_3249+50dup	XP_011518420.1:n.3249+36_3249+50dup