Canonical Allele Identifier: CA2613397836

Gene: MYBPC3

Linked Data

• gnomAD v4: 11-47350068-C-CGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47350071_47350073dup , CM000673.2:g.47350071_47350073dup	GRCh38
NC_000011.9:g.47371622_47371624dup , CM000673.1:g.47371622_47371624dup	GRCh37
NC_000011.8:g.47328198_47328200dup	NCBI36
NG_007667.1:g.7632_7634dup , LRG_386:g.7632_7634dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.448_450dup MANE Select	ENSP00000442795.1:p.Pro150_Asp151insPro
ENST00000256993.8:c.448_450dup	ENSP00000256993.5:p.Pro150_Asp151insPro
ENST00000399249.6:c.448_450dup	ENSP00000382193.2:p.Pro150_Asp151insPro
ENST00000544791.1:c.448_450dup	ENSP00000444259.1:p.Pro150_Asp151insPro
ENST00000545968.5:c.448_450dup	ENSP00000442795.1:p.Pro150_Asp151insPro
NM_000256.3:c.448_450dup , LRG_386t1:c.448_450dup MANE Select	NP_000247.2:p.Pro150_Asp151insPro
XM_011520117.1:c.448_450dup	XP_011518419.1:p.Pro150_Asp151insPro
XM_011520118.1:c.448_450dup	XP_011518420.1:p.Pro150_Asp151insPro