Canonical Allele Identifier: CA1969335764
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47342558_47342559delinsGC , CM000673.2:g.47342558_47342559delinsGC GRCh38
NC_000011.9:g.47364109_47364110delinsGC , CM000673.1:g.47364109_47364110delinsGC GRCh37
NC_000011.8:g.47320685_47320686delinsGC NCBI36
NG_007667.1:g.15144_15145delinsGC , LRG_386:g.15144_15145delinsGC

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.1624+19_1624+20delinsGC MANE Select ENSP00000442795.1:n.1624+19_1624+20delinsGC
ENST00000256993.8:c.1624+19_1624+20delinsGC ENSP00000256993.5:n.1624+19_1624+20delinsGC
ENST00000399249.6:c.1624+19_1624+20delinsGC ENSP00000382193.2:n.1624+19_1624+20delinsGC
ENST00000544791.1:c.1624+19_1624+20delinsGC ENSP00000444259.1:n.1624+19_1624+20delinsGC
ENST00000545968.5:c.1624+19_1624+20delinsGC ENSP00000442795.1:n.1624+19_1624+20delinsGC
NM_000256.3:c.1624+19_1624+20delinsGC , LRG_386t1:c.1624+19_1624+20delinsGC MANE Select NP_000247.2:n.1624+19_1624+20delinsGC
XM_011520117.1:c.1606+19_1606+20delinsGC XP_011518419.1:n.1606+19_1606+20delinsGC
XM_011520118.1:c.1624+19_1624+20delinsGC XP_011518420.1:n.1624+19_1624+20delinsGC