Canonical Allele Identifier: CA2791331141
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333857_47333868del , CM000673.2:g.47333857_47333868del GRCh38
NC_000011.9:g.47355408_47355419del , CM000673.1:g.47355408_47355419del GRCh37
NC_000011.8:g.47311984_47311995del NCBI36
NG_007667.1:g.23835_23846del , LRG_386:g.23835_23846del

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2994+54_2994+65del MANE Select ENSP00000442795.1:n.2994+54_2994+65del
ENST00000256993.8:c.2994+54_2994+65del ENSP00000256993.5:n.2994+54_2994+65del
ENST00000399249.6:c.2994+54_2994+65del ENSP00000382193.2:n.2994+54_2994+65del
ENST00000545968.5:c.2994+54_2994+65del ENSP00000442795.1:n.2994+54_2994+65del
NM_000256.3:c.2994+54_2994+65del , LRG_386t1:c.2994+54_2994+65del MANE Select NP_000247.2:n.2994+54_2994+65del
XM_011520117.1:c.2976+54_2976+65del XP_011518419.1:n.2976+54_2976+65del
XM_011520118.1:c.2913+54_2913+65del XP_011518420.1:n.2913+54_2913+65del