Canonical Allele Identifier: CA1969334459
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47341005_47341006delinsTG , CM000673.2:g.47341005_47341006delinsTG GRCh38
NC_000011.9:g.47362556_47362557delinsTG , CM000673.1:g.47362556_47362557delinsTG GRCh37
NC_000011.8:g.47319132_47319133delinsTG NCBI36
NG_007667.1:g.16697_16698delinsCA , LRG_386:g.16697_16698delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1924_1925delinsCA MANE Select ENSP00000442795.1:p.Gln642=
ENST00000256993.8:c.1924_1925delinsCA ENSP00000256993.5:p.Gln642=
ENST00000399249.6:c.1924_1925delinsCA ENSP00000382193.2:p.Gln642=
ENST00000544791.1:c.1924_1925delinsCA ENSP00000444259.1:p.Gln642=
ENST00000545968.5:c.1924_1925delinsCA ENSP00000442795.1:p.Gln642=
NM_000256.3:c.1924_1925delinsCA , LRG_386t1:c.1924_1925delinsCA MANE Select NP_000247.2:p.Gln642=
XM_011520117.1:c.1906_1907delinsCA XP_011518419.1:p.Gln636=
XM_011520118.1:c.1924_1925delinsCA XP_011518420.1:p.Gln642=