Canonical Allele Identifier: CA2791331364
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47335028_47335038del , CM000673.2:g.47335028_47335038del GRCh38
NC_000011.9:g.47356579_47356589del , CM000673.1:g.47356579_47356589del GRCh37
NC_000011.8:g.47313155_47313165del NCBI36
NG_007667.1:g.22665_22675del , LRG_386:g.22665_22675del

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2905+4_2905+14del MANE Select ENSP00000442795.1:n.2905+4_2905+14del
ENST00000256993.8:c.2905+4_2905+14del ENSP00000256993.5:n.2905+4_2905+14del
ENST00000399249.6:c.2905+4_2905+14del ENSP00000382193.2:n.2905+4_2905+14del
ENST00000545968.5:c.2905+4_2905+14del ENSP00000442795.1:n.2905+4_2905+14del
NM_000256.3:c.2905+4_2905+14del , LRG_386t1:c.2905+4_2905+14del MANE Select NP_000247.2:n.2905+4_2905+14del
XM_011520117.1:c.2887+4_2887+14del XP_011518419.1:n.2887+4_2887+14del
XM_011520118.1:c.2824+4_2824+14del XP_011518420.1:n.2824+4_2824+14del