Canonical Allele Identifier: CA1969335464
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333382_47333383delinsAG , CM000673.2:g.47333382_47333383delinsAG GRCh38
NC_000011.9:g.47354933_47354934delinsAG , CM000673.1:g.47354933_47354934delinsAG GRCh37
NC_000011.8:g.47311509_47311510delinsAG NCBI36
NG_007667.1:g.24320_24321delinsCT , LRG_386:g.24320_24321delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3191-50_3191-49delinsCT MANE Select ENSP00000442795.1:n.3191-50_3191-49delinsCT
ENST00000256993.8:c.3191-50_3191-49delinsCT ENSP00000256993.5:n.3191-50_3191-49delinsCT
ENST00000399249.6:c.3191-50_3191-49delinsCT ENSP00000382193.2:n.3191-50_3191-49delinsCT
ENST00000545968.5:c.3191-50_3191-49delinsCT ENSP00000442795.1:n.3191-50_3191-49delinsCT
NM_000256.3:c.3191-50_3191-49delinsCT , LRG_386t1:c.3191-50_3191-49delinsCT MANE Select NP_000247.2:n.3191-50_3191-49delinsCT
XM_011520117.1:c.3173-50_3173-49delinsCT XP_011518419.1:n.3173-50_3173-49delinsCT
XM_011520118.1:c.3110-50_3110-49delinsCT XP_011518420.1:n.3110-50_3110-49delinsCT