Canonical Allele Identifier: CA1969331842
Gene: MYBPC3 HGNC NCBI

Linked Data

dbSNP Id: rs2095884575

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47338190_47338191del , CM000673.2:g.47338190_47338191del GRCh38
NC_000011.9:g.47359741_47359742del , CM000673.1:g.47359741_47359742del GRCh37
NC_000011.8:g.47316317_47316318del NCBI36
NG_007667.1:g.19515_19516del , LRG_386:g.19515_19516del

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2308+332_2308+333del MANE Select ENSP00000442795.1:n.2308+332_2308+333del
ENST00000256993.8:c.2308+332_2308+333del ENSP00000256993.5:n.2308+332_2308+333del
ENST00000399249.6:c.2308+332_2308+333del ENSP00000382193.2:n.2308+332_2308+333del
ENST00000544791.1:c.2308+332_2308+333del ENSP00000444259.1:n.2308+332_2308+333del
ENST00000545968.5:c.2308+332_2308+333del ENSP00000442795.1:n.2308+332_2308+333del
NM_000256.3:c.2308+332_2308+333del , LRG_386t1:c.2308+332_2308+333del MANE Select NP_000247.2:n.2308+332_2308+333del
XM_011520117.1:c.2290+332_2290+333del XP_011518419.1:n.2290+332_2290+333del
XM_011520118.1:c.2227+332_2227+333del XP_011518420.1:n.2227+332_2227+333del