Canonical Allele Identifier: CA014796

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 8603
• ClinVar RCV Id: RCV000009134 ; RCV000030290 ; RCV000223778 ; RCV000463609 ; RCV000620220 ; RCV001181534 ; RCV002490342 ; RCV002508917
• dbSNP Id: rs193922384
• gnomAD v3: 11-47332126-T-TGCAGACATAGATGCCCCC
• gnomAD v4: 11-47332126-T-TGCAGACATAGATGCCCCC
• MyVariant Identifiers: chr11:g.47353678_47353695dup18 (hg19) ; chr11:g.47353677_47353678insGCAGACATAGATGCCCCC (hg19) ; chr11:g.47332127_47332144dup18 (hg38) ; chr11:g.47332126_47332127insGCAGACATAGATGCCCCC (hg38)
• PubMed: PMID:7493025 ; PMID:11499718 ; PMID:12202917 ; PMID:15519027 ; PMID:20864638 ; PMID:23038776 ; PMID:23549607 ; PMID:24510615 ; PMID:25031304

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47332128_47332145dup , CM000673.2:g.47332128_47332145dup	GRCh38
NC_000011.9:g.47353679_47353696dup , CM000673.1:g.47353679_47353696dup	GRCh37
NC_000011.8:g.47310255_47310272dup	NCBI36
NG_007667.1:g.25559_25576dup , LRG_386:g.25559_25576dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.3742_3759dup MANE Select	ENSP00000442795.1:p.Cys1253_Arg1254insGlyGlyIleTyrValCys
ENST00000256993.8:c.3742_3759dup	ENSP00000256993.5:p.Cys1253_Arg1254insGlyGlyIleTyrValCys
ENST00000399249.6:c.3742_3759dup	ENSP00000382193.2:p.Cys1253_Arg1254insGlyGlyIleTyrValCys
ENST00000545968.5:c.3742_3759dup	ENSP00000442795.1:p.Cys1253_Arg1254insGlyGlyIleTyrValCys
NM_000256.3:c.3742_3759dup , LRG_386t1:c.3742_3759dup MANE Select	NP_000247.2:p.Cys1253_Arg1254insGlyGlyIleTyrValCys
XM_011520117.1:c.3724_3741dup	XP_011518419.1:p.Cys1247_Arg1248insGlyGlyIleTyrValCys
XM_011520118.1:c.3661_3678dup	XP_011518420.1:p.Cys1226_Arg1227insGlyGlyIleTyrValCys