Canonical Allele Identifier: CA1969334531

Gene: MYBPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47341069_47341088delinsAGGCAGGGCCCAGTGACAGG , CM000673.2:g.47341069_47341088delinsAGGCAGGGCCCAGTGACAGG	GRCh38
NC_000011.9:g.47362620_47362639delinsAGGCAGGGCCCAGTGACAGG , CM000673.1:g.47362620_47362639delinsAGGCAGGGCCCAGTGACAGG	GRCh37
NC_000011.8:g.47319196_47319215delinsAGGCAGGGCCCAGTGACAGG	NCBI36
NG_007667.1:g.16615_16634delinsCCTGTCACTGGGCCCTGCCT , LRG_386:g.16615_16634delinsCCTGTCACTGGGCCCTGCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1897+50_1898-37delinsCCTGTCACTGGGCCCTGCCT MANE Select	ENSP00000442795.1:n.1897+50_1898-37delinsCCTGTCACTGGGCCCTGCCT...
ENST00000256993.8:c.1897+50_1898-37delinsCCTGTCACTGGGCCCTGCCT	ENSP00000256993.5:n.1897+50_1898-37delinsCCTGTCACTGGGCCCTGCCT...
ENST00000399249.6:c.1897+50_1898-37delinsCCTGTCACTGGGCCCTGCCT	ENSP00000382193.2:n.1897+50_1898-37delinsCCTGTCACTGGGCCCTGCCT...
ENST00000544791.1:c.1897+50_1898-37delinsCCTGTCACTGGGCCCTGCCT	ENSP00000444259.1:n.1897+50_1898-37delinsCCTGTCACTGGGCCCTGCCT...
ENST00000545968.5:c.1897+50_1898-37delinsCCTGTCACTGGGCCCTGCCT	ENSP00000442795.1:n.1897+50_1898-37delinsCCTGTCACTGGGCCCTGCCT...
NM_000256.3:c.1897+50_1898-37delinsCCTGTCACTGGGCCCTGCCT , LRG_386t1:c.1897+50_1898-37delinsCCTGTCACTGGGCCCTGCCT MANE Select	NP_000247.2:n.1897+50_1898-37delinsCCTGTCACTGGGCCCTGCCT
XM_011520117.1:c.1879+50_1880-37delinsCCTGTCACTGGGCCCTGCCT	XP_011518419.1:n.1879+50_1880-37delinsCCTGTCACTGGGCCCTGCCT
XM_011520118.1:c.1897+50_1898-37delinsCCTGTCACTGGGCCCTGCCT	XP_011518420.1:n.1897+50_1898-37delinsCCTGTCACTGGGCCCTGCCT