Canonical Allele Identifier: CA599374185

Gene: MYBPC3

Linked Data

• dbSNP Id: rs1214768607
• gnomAD v2: 11-47372661-CG-C
• gnomAD v3: 11-47351110-CG-C
• gnomAD v4: 11-47351110-CG-C
• MyVariant Identifiers: chr11:g.47372662del (hg19) ; chr11:g.47351111del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47351116del , CM000673.2:g.47351116del	GRCh38
NC_000011.9:g.47372667del , CM000673.1:g.47372667del	GRCh37
NC_000011.8:g.47329243del	NCBI36
NG_007667.1:g.6592del , LRG_386:g.6592del

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.292+128del MANE Select	ENSP00000442795.1:n.292+128del
ENST00000256993.8:c.292+128del	ENSP00000256993.5:n.292+128del
ENST00000399249.6:c.292+128del	ENSP00000382193.2:n.292+128del
ENST00000544791.1:c.292+128del	ENSP00000444259.1:n.292+128del
ENST00000545968.5:c.292+128del	ENSP00000442795.1:n.292+128del
NM_000256.3:c.292+128del , LRG_386t1:c.292+128del MANE Select	NP_000247.2:n.292+128del
XM_011520117.1:c.292+128del	XP_011518419.1:n.292+128del
XM_011520118.1:c.292+128del	XP_011518420.1:n.292+128del