Canonical Allele Identifier: CA2580615690

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 1512852
• ClinVar RCV Id: RCV002023239
• dbSNP Id: rs2142861022

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47342663_47342665del , CM000673.2:g.47342663_47342665del	GRCh38
NC_000011.9:g.47364214_47364216del , CM000673.1:g.47364214_47364216del	GRCh37
NC_000011.8:g.47320790_47320792del	NCBI36
NG_007667.1:g.15042_15044del , LRG_386:g.15042_15044del

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.1541_1543del MANE Select	ENSP00000442795.1:p.Ile514del
ENST00000256993.8:c.1541_1543del	ENSP00000256993.5:p.Ile514del
ENST00000399249.6:c.1541_1543del	ENSP00000382193.2:p.Ile514del
ENST00000544791.1:c.1541_1543del	ENSP00000444259.1:p.Ile514del
ENST00000545968.5:c.1541_1543del	ENSP00000442795.1:p.Ile514del
NM_000256.3:c.1541_1543del , LRG_386t1:c.1541_1543del MANE Select	NP_000247.2:p.Ile514del
XM_011520117.1:c.1523_1525del	XP_011518419.1:p.Ile508del
XM_011520118.1:c.1541_1543del	XP_011518420.1:p.Ile514del