Canonical Allele Identifier: CA1969335041
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333174_47333175delinsAC , CM000673.2:g.47333174_47333175delinsAC GRCh38
NC_000011.9:g.47354725_47354726delinsAC , CM000673.1:g.47354725_47354726delinsAC GRCh37
NC_000011.8:g.47311301_47311302delinsAC NCBI36
NG_007667.1:g.24528_24529delinsGT , LRG_386:g.24528_24529delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3330+19_3330+20delinsGT MANE Select ENSP00000442795.1:n.3330+19_3330+20delinsGT
ENST00000256993.8:c.3330+19_3330+20delinsGT ENSP00000256993.5:n.3330+19_3330+20delinsGT
ENST00000399249.6:c.3330+19_3330+20delinsGT ENSP00000382193.2:n.3330+19_3330+20delinsGT
ENST00000545968.5:c.3330+19_3330+20delinsGT ENSP00000442795.1:n.3330+19_3330+20delinsGT
NM_000256.3:c.3330+19_3330+20delinsGT , LRG_386t1:c.3330+19_3330+20delinsGT MANE Select NP_000247.2:n.3330+19_3330+20delinsGT
XM_011520117.1:c.3312+19_3312+20delinsGT XP_011518419.1:n.3312+19_3312+20delinsGT
XM_011520118.1:c.3249+19_3249+20delinsGT XP_011518420.1:n.3249+19_3249+20delinsGT