Canonical Allele Identifier: CA599374103

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 1553035
• ClinVar RCV Id: RCV002187349
• dbSNP Id: rs1397090654
• gnomAD v2: 11-47353822-TAAAG-T
• gnomAD v4: 11-47332271-TAAAG-T
• MyVariant Identifiers: chr11:g.47353823_47353826del (hg19) ; chr11:g.47332272_47332275del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47332273_47332276del , CM000673.2:g.47332273_47332276del	GRCh38
NC_000011.9:g.47353824_47353827del , CM000673.1:g.47353824_47353827del	GRCh37
NC_000011.8:g.47310400_47310403del	NCBI36
NG_007667.1:g.25428_25431del , LRG_386:g.25428_25431del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.3628-17_3628-14del MANE Select	ENSP00000442795.1:n.3628-17_3628-14del
ENST00000256993.8:c.3628-17_3628-14del	ENSP00000256993.5:n.3628-17_3628-14del
ENST00000399249.6:c.3628-17_3628-14del	ENSP00000382193.2:n.3628-17_3628-14del
ENST00000545968.5:c.3628-17_3628-14del	ENSP00000442795.1:n.3628-17_3628-14del
NM_000256.3:c.3628-17_3628-14del , LRG_386t1:c.3628-17_3628-14del MANE Select	NP_000247.2:n.3628-17_3628-14del
XM_011520117.1:c.3610-17_3610-14del	XP_011518419.1:n.3610-17_3610-14del
XM_011520118.1:c.3547-17_3547-14del	XP_011518420.1:n.3547-17_3547-14del