Canonical Allele Identifier: CA658797625

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 503948
• ClinVar RCV Id: RCV000598587
• dbSNP Id: rs1555121260

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337580_47337581delinsTGGA , CM000673.2:g.47337580_47337581delinsTGGA	GRCh38
NC_000011.9:g.47359131_47359132delinsTGGA , CM000673.1:g.47359131_47359132delinsTGGA	GRCh37
NC_000011.8:g.47315707_47315708delinsTGGA	NCBI36
NG_007667.1:g.20122_20123delinsTCCA , LRG_386:g.20122_20123delinsTCCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.2414-2_2414-1delinsTCCA MANE Select	ENSP00000442795.1:n.2414-2_2414-1delinsTCCA
ENST00000256993.8:c.2414-2_2414-1delinsTCCA	ENSP00000256993.5:n.2414-2_2414-1delinsTCCA
ENST00000399249.6:c.2414-2_2414-1delinsTCCA	ENSP00000382193.2:n.2414-2_2414-1delinsTCCA
ENST00000544791.1:c.2414-70_2414-69delinsTCCA	ENSP00000444259.1:n.2414-70_2414-69delinsTCCA
ENST00000545968.5:c.2414-2_2414-1delinsTCCA	ENSP00000442795.1:n.2414-2_2414-1delinsTCCA
NM_000256.3:c.2414-2_2414-1delinsTCCA , LRG_386t1:c.2414-2_2414-1delinsTCCA MANE Select	NP_000247.2:n.2414-2_2414-1delinsTCCA
XM_011520117.1:c.2396-2_2396-1delinsTCCA	XP_011518419.1:n.2396-2_2396-1delinsTCCA
XM_011520118.1:c.2333-2_2333-1delinsTCCA	XP_011518420.1:n.2333-2_2333-1delinsTCCA