Canonical Allele Identifier: CA1969335132
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47341778_47341780delinsCTA , CM000673.2:g.47341778_47341780delinsCTA GRCh38
NC_000011.9:g.47363329_47363331delinsCTA , CM000673.1:g.47363329_47363331delinsCTA GRCh37
NC_000011.8:g.47319905_47319907delinsCTA NCBI36
NG_007667.1:g.15923_15925delinsTAG , LRG_386:g.15923_15925delinsTAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1790+211_1790+213delinsTAG MANE Select ENSP00000442795.1:n.1790+211_1790+213delinsTAG
ENST00000256993.8:c.1790+211_1790+213delinsTAG ENSP00000256993.5:n.1790+211_1790+213delinsTAG
ENST00000399249.6:c.1790+211_1790+213delinsTAG ENSP00000382193.2:n.1790+211_1790+213delinsTAG
ENST00000544791.1:c.1790+211_1790+213delinsTAG ENSP00000444259.1:n.1790+211_1790+213delinsTAG
ENST00000545968.5:c.1790+211_1790+213delinsTAG ENSP00000442795.1:n.1790+211_1790+213delinsTAG
NM_000256.3:c.1790+211_1790+213delinsTAG , LRG_386t1:c.1790+211_1790+213delinsTAG MANE Select NP_000247.2:n.1790+211_1790+213delinsTAG
XM_011520117.1:c.1772+211_1772+213delinsTAG XP_011518419.1:n.1772+211_1772+213delinsTAG
XM_011520118.1:c.1790+211_1790+213delinsTAG XP_011518420.1:n.1790+211_1790+213delinsTAG