Canonical Allele Identifier: CA1969342515
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47351110_47351111delinsCG , CM000673.2:g.47351110_47351111delinsCG GRCh38
NC_000011.9:g.47372661_47372662delinsCG , CM000673.1:g.47372661_47372662delinsCG GRCh37
NC_000011.8:g.47329237_47329238delinsCG NCBI36
NG_007667.1:g.6592_6593delinsCG , LRG_386:g.6592_6593delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.292+128_292+129delinsCG MANE Select ENSP00000442795.1:n.292+128_292+129delinsCG
ENST00000256993.8:c.292+128_292+129delinsCG ENSP00000256993.5:n.292+128_292+129delinsCG
ENST00000399249.6:c.292+128_292+129delinsCG ENSP00000382193.2:n.292+128_292+129delinsCG
ENST00000544791.1:c.292+128_292+129delinsCG ENSP00000444259.1:n.292+128_292+129delinsCG
ENST00000545968.5:c.292+128_292+129delinsCG ENSP00000442795.1:n.292+128_292+129delinsCG
NM_000256.3:c.292+128_292+129delinsCG , LRG_386t1:c.292+128_292+129delinsCG MANE Select NP_000247.2:n.292+128_292+129delinsCG
XM_011520117.1:c.292+128_292+129delinsCG XP_011518419.1:n.292+128_292+129delinsCG
XM_011520118.1:c.292+128_292+129delinsCG XP_011518420.1:n.292+128_292+129delinsCG