Canonical Allele Identifier: CA16613583

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 407325
• ClinVar RCV Id: RCV000475048
• dbSNP Id: rs1060501482
• MyVariant Identifiers: chr11:g.47359236_47359238del (hg19) ; chr11:g.47337685_47337687del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337685_47337687del , CM000673.2:g.47337685_47337687del	GRCh38
NC_000011.9:g.47359236_47359238del , CM000673.1:g.47359236_47359238del	GRCh37
NC_000011.8:g.47315812_47315814del	NCBI36
NG_007667.1:g.20016_20018del , LRG_386:g.20016_20018del

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.2413+3_2413+5del MANE Select	ENSP00000442795.1:n.2413+3_2413+5del
ENST00000256993.8:c.2413+3_2413+5del	ENSP00000256993.5:n.2413+3_2413+5del
ENST00000399249.6:c.2413+3_2413+5del	ENSP00000382193.2:n.2413+3_2413+5del
ENST00000544791.1:c.2413+3_2413+5del	ENSP00000444259.1:n.2413+3_2413+5del
ENST00000545968.5:c.2413+3_2413+5del	ENSP00000442795.1:n.2413+3_2413+5del
NM_000256.3:c.2413+3_2413+5del , LRG_386t1:c.2413+3_2413+5del MANE Select	NP_000247.2:n.2413+3_2413+5del
XM_011520117.1:c.2395+3_2395+5del	XP_011518419.1:n.2395+3_2395+5del
XM_011520118.1:c.2332+3_2332+5del	XP_011518420.1:n.2332+3_2332+5del