Canonical Allele Identifier: CA915940858

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 1333262
• ClinVar RCV Id: RCV001807950
• dbSNP Id: rs2142850797

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47333211_47333212insCC , CM000673.2:g.47333211_47333212insCC	GRCh38
NC_000011.9:g.47354762_47354763insCC , CM000673.1:g.47354762_47354763insCC	GRCh37
NC_000011.8:g.47311338_47311339insCC	NCBI36
NG_007667.1:g.24492_24493insGG , LRG_386:g.24492_24493insGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.3313_3314insGG MANE Select	ENSP00000442795.1:p.Ala1105GlyfsTer?
ENST00000256993.8:c.3313_3314insGG	ENSP00000256993.5:p.Ala1105GlyfsTer?
ENST00000399249.6:c.3313_3314insGG	ENSP00000382193.2:p.Ala1105GlyfsTer?
ENST00000545968.5:c.3313_3314insGG	ENSP00000442795.1:p.Ala1105GlyfsTer?
NM_000256.3:c.3313_3314insGG , LRG_386t1:c.3313_3314insGG MANE Select	NP_000247.2:p.Ala1105GlyfsTer?
XM_011520117.1:c.3295_3296insGG	XP_011518419.1:p.Ala1099GlyfsTer?
XM_011520118.1:c.3232_3233insGG	XP_011518420.1:p.Ala1078GlyfsTer?