Canonical Allele Identifier: CA1969335143
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47341790_47341794delinsTTCTG , CM000673.2:g.47341790_47341794delinsTTCTG GRCh38
NC_000011.9:g.47363341_47363345delinsTTCTG , CM000673.1:g.47363341_47363345delinsTTCTG GRCh37
NC_000011.8:g.47319917_47319921delinsTTCTG NCBI36
NG_007667.1:g.15909_15913delinsCAGAA , LRG_386:g.15909_15913delinsCAGAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1790+197_1790+201delinsCAGAA MANE Select ENSP00000442795.1:n.1790+197_1790+201delinsCAGAA
ENST00000256993.8:c.1790+197_1790+201delinsCAGAA ENSP00000256993.5:n.1790+197_1790+201delinsCAGAA
ENST00000399249.6:c.1790+197_1790+201delinsCAGAA ENSP00000382193.2:n.1790+197_1790+201delinsCAGAA
ENST00000544791.1:c.1790+197_1790+201delinsCAGAA ENSP00000444259.1:n.1790+197_1790+201delinsCAGAA
ENST00000545968.5:c.1790+197_1790+201delinsCAGAA ENSP00000442795.1:n.1790+197_1790+201delinsCAGAA
NM_000256.3:c.1790+197_1790+201delinsCAGAA , LRG_386t1:c.1790+197_1790+201delinsCAGAA MANE Select NP_000247.2:n.1790+197_1790+201delinsCAGAA
XM_011520117.1:c.1772+197_1772+201delinsCAGAA XP_011518419.1:n.1772+197_1772+201delinsCAGAA
XM_011520118.1:c.1790+197_1790+201delinsCAGAA XP_011518420.1:n.1790+197_1790+201delinsCAGAA