Canonical Allele Identifier: CA1969334551

Gene: MYBPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47341090_47341093delinsGCTC , CM000673.2:g.47341090_47341093delinsGCTC	GRCh38
NC_000011.9:g.47362641_47362644delinsGCTC , CM000673.1:g.47362641_47362644delinsGCTC	GRCh37
NC_000011.8:g.47319217_47319220delinsGCTC	NCBI36
NG_007667.1:g.16610_16613delinsGAGC , LRG_386:g.16610_16613delinsGAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1897+45_1897+48delinsGAGC MANE Select	ENSP00000442795.1:n.1897+45_1897+48delinsGAGC
ENST00000256993.8:c.1897+45_1897+48delinsGAGC	ENSP00000256993.5:n.1897+45_1897+48delinsGAGC
ENST00000399249.6:c.1897+45_1897+48delinsGAGC	ENSP00000382193.2:n.1897+45_1897+48delinsGAGC
ENST00000544791.1:c.1897+45_1897+48delinsGAGC	ENSP00000444259.1:n.1897+45_1897+48delinsGAGC
ENST00000545968.5:c.1897+45_1897+48delinsGAGC	ENSP00000442795.1:n.1897+45_1897+48delinsGAGC
NM_000256.3:c.1897+45_1897+48delinsGAGC , LRG_386t1:c.1897+45_1897+48delinsGAGC MANE Select	NP_000247.2:n.1897+45_1897+48delinsGAGC
XM_011520117.1:c.1879+45_1879+48delinsGAGC	XP_011518419.1:n.1879+45_1879+48delinsGAGC
XM_011520118.1:c.1897+45_1897+48delinsGAGC	XP_011518420.1:n.1897+45_1897+48delinsGAGC