Canonical Allele Identifier: CA221693940

Gene: MYBPC3

Linked Data

• dbSNP Id: rs765946492
• gnomAD v4: 11-47341105-G-GCCC
• MyVariant Identifiers: chr11:g.47362656_47362657insCCC (hg19) ; chr11:g.47341105_47341106insCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47341107_47341109dup , CM000673.2:g.47341107_47341109dup	GRCh38
NC_000011.9:g.47362658_47362660dup , CM000673.1:g.47362658_47362660dup	GRCh37
NC_000011.8:g.47319234_47319236dup	NCBI36
NG_007667.1:g.16595_16597dup , LRG_386:g.16595_16597dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1897+30_1897+32dup MANE Select	ENSP00000442795.1:n.1897+30_1897+32dup
ENST00000256993.8:c.1897+30_1897+32dup	ENSP00000256993.5:n.1897+30_1897+32dup
ENST00000399249.6:c.1897+30_1897+32dup	ENSP00000382193.2:n.1897+30_1897+32dup
ENST00000544791.1:c.1897+30_1897+32dup	ENSP00000444259.1:n.1897+30_1897+32dup
ENST00000545968.5:c.1897+30_1897+32dup	ENSP00000442795.1:n.1897+30_1897+32dup
NM_000256.3:c.1897+30_1897+32dup , LRG_386t1:c.1897+30_1897+32dup MANE Select	NP_000247.2:n.1897+30_1897+32dup
XM_011520117.1:c.1879+30_1879+32dup	XP_011518419.1:n.1879+30_1879+32dup
XM_011520118.1:c.1897+30_1897+32dup	XP_011518420.1:n.1897+30_1897+32dup