Canonical Allele Identifier: CA296493
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 181152
ClinVar RCV Id: RCV000223746
dbSNP Id: rs730880716
MyVariant Identifiers: chr11:g.47356706dupA (hg19) chr11:g.47356705_47356706insA (hg19) chr11:g.47335155dupA (hg38) chr11:g.47335154_47335155insA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47335155dup , CM000673.2:g.47335155dup GRCh38
NC_000011.9:g.47356706dup , CM000673.1:g.47356706dup GRCh37
NC_000011.8:g.47313282dup NCBI36
NG_007667.1:g.22548dup , LRG_386:g.22548dup

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.2792dup MANE Select ENSP00000442795.1:p.Lys932GlufsTer?
ENST00000256993.8:c.2792dup ENSP00000256993.5:p.Lys932GlufsTer?
ENST00000399249.6:c.2792dup ENSP00000382193.2:p.Lys932GlufsTer?
ENST00000545968.5:c.2792dup ENSP00000442795.1:p.Lys932GlufsTer?
NM_000256.3:c.2792dup , LRG_386t1:c.2792dup MANE Select NP_000247.2:p.Lys932GlufsTer?
XM_011520117.1:c.2774dup XP_011518419.1:p.Lys926GlufsTer?
XM_011520118.1:c.2711dup XP_011518420.1:p.Lys905GlufsTer?
Search 100 bp 5'
Search 100 bp 3'