Canonical Allele Identifier: CA014933

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 179534
• ClinVar RCV Id: RCV000156326
• dbSNP Id: rs727504933
• gnomAD v4: 11-47332083-AGGC-A
• MyVariant Identifiers: chr11:g.47353635_47353637del (hg19) ; chr11:g.47332084_47332086del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47332087_47332089del , CM000673.2:g.47332087_47332089del	GRCh38
NC_000011.9:g.47353638_47353640del , CM000673.1:g.47353638_47353640del	GRCh37
NC_000011.8:g.47310214_47310216del	NCBI36
NG_007667.1:g.25617_25619del , LRG_386:g.25617_25619del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.3800_3802del MANE Select	ENSP00000442795.1:p.Arg1267del
ENST00000256993.8:c.3800_3802del	ENSP00000256993.5:p.Arg1267del
ENST00000399249.6:c.3800_3802del	ENSP00000382193.2:p.Arg1267del
ENST00000545968.5:c.3800_3802del	ENSP00000442795.1:p.Arg1267del
NM_000256.3:c.3800_3802del , LRG_386t1:c.3800_3802del MANE Select	NP_000247.2:p.Arg1267del
XM_011520117.1:c.3782_3784del	XP_011518419.1:p.Arg1261del
XM_011520118.1:c.3719_3721del	XP_011518420.1:p.Arg1240del