Canonical Allele Identifier: CA2580084229

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 1709166
• ClinVar RCV Id: RCV002288450

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47333294_47333300del , CM000673.2:g.47333294_47333300del	GRCh38
NC_000011.9:g.47354845_47354851del , CM000673.1:g.47354845_47354851del	GRCh37
NC_000011.8:g.47311421_47311427del	NCBI36
NG_007667.1:g.24406_24412del , LRG_386:g.24406_24412del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.3227_3233del MANE Select	ENSP00000442795.1:p.Asp1076GlyfsTer?
ENST00000256993.8:c.3227_3233del	ENSP00000256993.5:p.Asp1076GlyfsTer?
ENST00000399249.6:c.3227_3233del	ENSP00000382193.2:p.Asp1076GlyfsTer?
ENST00000545968.5:c.3227_3233del	ENSP00000442795.1:p.Asp1076GlyfsTer?
NM_000256.3:c.3227_3233del , LRG_386t1:c.3227_3233del MANE Select	NP_000247.2:p.Asp1076GlyfsTer?
XM_011520117.1:c.3209_3215del	XP_011518419.1:p.Asp1070GlyfsTer?
XM_011520118.1:c.3146_3152del	XP_011518420.1:p.Asp1049GlyfsTer?