Canonical Allele Identifier: CA5975387
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1292621
ClinVar RCV Id: RCV001714544
dbSNP Id: rs768257586
ExAC: 11:47374247 A / AG
gnomAD v2: 11-47374247-A-AG
gnomAD v3: 11-47352696-A-AG
gnomAD v4: 11-47352696-A-AG
MyVariant Identifiers: chr11:g.47374247_47374248insG (hg19) chr11:g.47352696_47352697insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47352699dup , CM000673.2:g.47352699dup GRCh38
NC_000011.9:g.47374250dup , CM000673.1:g.47374250dup GRCh37
NC_000011.8:g.47330826dup NCBI36
NG_007667.1:g.5006dup , LRG_386:g.5006dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.-50dup MANE Select ENSP00000442795.1:n.-50dup
ENST00000256993.8:c.-50dup ENSP00000256993.5:n.-50dup
ENST00000399249.6:c.-50dup ENSP00000382193.2:n.-50dup
ENST00000544791.1:c.-50dup ENSP00000444259.1:n.-50dup
ENST00000545968.5:c.-50dup ENSP00000442795.1:n.-50dup
NM_000256.3:c.-50dup , LRG_386t1:c.-50dup MANE Select NP_000247.2:n.-50dup
XM_011520117.1:c.-50dup XP_011518419.1:n.-50dup
XM_011520118.1:c.-50dup XP_011518420.1:n.-50dup
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