Canonical Allele Identifier: CA2580084265

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 2497959
• ClinVar RCV Id: RCV003219025

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47335106_47335111delinsTTGTGT , CM000673.2:g.47335106_47335111delinsTTGTGT	GRCh38
NC_000011.9:g.47356657_47356662delinsTTGTGT , CM000673.1:g.47356657_47356662delinsTTGTGT	GRCh37
NC_000011.8:g.47313233_47313238delinsTTGTGT	NCBI36
NG_007667.1:g.22592_22597delinsACACAA , LRG_386:g.22592_22597delinsACACAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.2836_2841delinsACACAA MANE Select	ENSP00000442795.1:p.Ala946_His947delinsTh...
ENST00000256993.8:c.2836_2841delinsACACAA	ENSP00000256993.5:p.Ala946_His947delinsTh...
ENST00000399249.6:c.2836_2841delinsACACAA	ENSP00000382193.2:p.Ala946_His947delinsTh...
ENST00000545968.5:c.2836_2841delinsACACAA	ENSP00000442795.1:p.Ala946_His947delinsTh...
NM_000256.3:c.2836_2841delinsACACAA , LRG_386t1:c.2836_2841delinsACACAA MANE Select	NP_000247.2:p.Ala946_His947delinsThrGln
XM_011520117.1:c.2818_2823delinsACACAA	XP_011518419.1:p.Ala940_His941delinsThrGl...
XM_011520118.1:c.2755_2760delinsACACAA	XP_011518420.1:p.Ala919_His920delinsThrGl...