Canonical Allele Identifier: CA2569459173
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47343683_47343706del , CM000673.2:g.47343683_47343706del GRCh38
NC_000011.9:g.47365234_47365257del , CM000673.1:g.47365234_47365257del GRCh37
NC_000011.8:g.47321810_47321833del NCBI36
NG_007667.1:g.13997_14020del , LRG_386:g.13997_14020del

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1091-82_1091-59del MANE Select ENSP00000442795.1:n.1091-82_1091-59del
ENST00000256993.8:c.1091-82_1091-59del ENSP00000256993.5:n.1091-82_1091-59del
ENST00000399249.6:c.1091-82_1091-59del ENSP00000382193.2:n.1091-82_1091-59del
ENST00000544791.1:c.1091-82_1091-59del ENSP00000444259.1:n.1091-82_1091-59del
ENST00000545968.5:c.1091-82_1091-59del ENSP00000442795.1:n.1091-82_1091-59del
NM_000256.3:c.1091-82_1091-59del , LRG_386t1:c.1091-82_1091-59del MANE Select NP_000247.2:n.1091-82_1091-59del
XM_011520117.1:c.1073-82_1073-59del XP_011518419.1:n.1073-82_1073-59del
XM_011520118.1:c.1091-82_1091-59del XP_011518420.1:n.1091-82_1091-59del