Canonical Allele Identifier: CA221689149

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 674276
• ClinVar RCV Id: RCV000833590
• dbSNP Id: rs11570095
• gnomAD v2: 11-47359464-CAA-C
• gnomAD v3: 11-47337913-CAA-C
• gnomAD v4: 11-47337913-CAA-C
• MyVariant Identifiers: chr11:g.47359465_47359466del (hg19) ; chr11:g.47337914_47337915del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337915_47337916del , CM000673.2:g.47337915_47337916del	GRCh38
NC_000011.9:g.47359466_47359467del , CM000673.1:g.47359466_47359467del	GRCh37
NC_000011.8:g.47316042_47316043del	NCBI36
NG_007667.1:g.19788_19789del , LRG_386:g.19788_19789del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2309-121_2309-120del MANE Select	ENSP00000442795.1:n.2309-121_2309-120del
ENST00000256993.8:c.2309-121_2309-120del	ENSP00000256993.5:n.2309-121_2309-120del
ENST00000399249.6:c.2309-121_2309-120del	ENSP00000382193.2:n.2309-121_2309-120del
ENST00000544791.1:c.2309-121_2309-120del	ENSP00000444259.1:n.2309-121_2309-120del
ENST00000545968.5:c.2309-121_2309-120del	ENSP00000442795.1:n.2309-121_2309-120del
NM_000256.3:c.2309-121_2309-120del , LRG_386t1:c.2309-121_2309-120del MANE Select	NP_000247.2:n.2309-121_2309-120del
XM_011520117.1:c.2291-121_2291-120del	XP_011518419.1:n.2291-121_2291-120del
XM_011520118.1:c.2228-121_2228-120del	XP_011518420.1:n.2228-121_2228-120del