Canonical Allele Identifier: CA1969335223
Gene: MYBPC3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333221_47333222delinsTG , CM000673.2:g.47333221_47333222delinsTG GRCh38
NC_000011.9:g.47354772_47354773delinsTG , CM000673.1:g.47354772_47354773delinsTG GRCh37
NC_000011.8:g.47311348_47311349delinsTG NCBI36
NG_007667.1:g.24481_24482delinsCA , LRG_386:g.24481_24482delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3302_3303delinsCA MANE Select ENSP00000442795.1:p.Thr1101=
ENST00000256993.8:c.3302_3303delinsCA ENSP00000256993.5:p.Thr1101=
ENST00000399249.6:c.3302_3303delinsCA ENSP00000382193.2:p.Thr1101=
ENST00000545968.5:c.3302_3303delinsCA ENSP00000442795.1:p.Thr1101=
NM_000256.3:c.3302_3303delinsCA , LRG_386t1:c.3302_3303delinsCA MANE Select NP_000247.2:p.Thr1101=
XM_011520117.1:c.3284_3285delinsCA XP_011518419.1:p.Thr1095=
XM_011520118.1:c.3221_3222delinsCA XP_011518420.1:p.Thr1074=
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