Canonical Allele Identifier: CA1969335127
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47341768_47341788delinsCTTTCTGTCTCTATAGAACTA , CM000673.2:g.47341768_47341788delinsCTTTCTGTCTCTATAGAACTA GRCh38
NC_000011.9:g.47363319_47363339delinsCTTTCTGTCTCTATAGAACTA , CM000673.1:g.47363319_47363339delinsCTTTCTGTCTCTATAGAACTA GRCh37
NC_000011.8:g.47319895_47319915delinsCTTTCTGTCTCTATAGAACTA NCBI36
NG_007667.1:g.15915_15935delinsTAGTTCTATAGAGACAGAAAG , LRG_386:g.15915_15935delinsTAGTTCTATAGAGACAGAAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1790+203_1790+223delinsTAGTTCTATAGAGACAGAAAG MANE Select ENSP00000442795.1:n.1790+203_1790+223delinsTAGTTCTATAGAGACAGA...
ENST00000256993.8:c.1790+203_1790+223delinsTAGTTCTATAGAGACAGAAAG ENSP00000256993.5:n.1790+203_1790+223delinsTAGTTCTATAGAGACAGA...
ENST00000399249.6:c.1790+203_1790+223delinsTAGTTCTATAGAGACAGAAAG ENSP00000382193.2:n.1790+203_1790+223delinsTAGTTCTATAGAGACAGA...
ENST00000544791.1:c.1790+203_1790+223delinsTAGTTCTATAGAGACAGAAAG ENSP00000444259.1:n.1790+203_1790+223delinsTAGTTCTATAGAGACAGA...
ENST00000545968.5:c.1790+203_1790+223delinsTAGTTCTATAGAGACAGAAAG ENSP00000442795.1:n.1790+203_1790+223delinsTAGTTCTATAGAGACAGA...
NM_000256.3:c.1790+203_1790+223delinsTAGTTCTATAGAGACAGAAAG , LRG_386t1:c.1790+203_1790+223delinsTAGTTCTATAGAGACAGAAAG MANE Select NP_000247.2:n.1790+203_1790+223delinsTAGTTCTATAGAGACAGAAAG
XM_011520117.1:c.1772+203_1772+223delinsTAGTTCTATAGAGACAGAAAG XP_011518419.1:n.1772+203_1772+223delinsTAGTTCTATAGAGACAGAAAG...
XM_011520118.1:c.1790+203_1790+223delinsTAGTTCTATAGAGACAGAAAG XP_011518420.1:n.1790+203_1790+223delinsTAGTTCTATAGAGACAGAAAG...