Canonical Allele Identifier: CA1969331762
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47338045_47338053delinsTCCGTCAAC , CM000673.2:g.47338045_47338053delinsTCCGTCAAC GRCh38
NC_000011.9:g.47359596_47359604delinsTCCGTCAAC , CM000673.1:g.47359596_47359604delinsTCCGTCAAC GRCh37
NC_000011.8:g.47316172_47316180delinsTCCGTCAAC NCBI36
NG_007667.1:g.19650_19658delinsGTTGACGGA , LRG_386:g.19650_19658delinsGTTGACGGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2309-259_2309-251delinsGTTGACGGA MANE Select ENSP00000442795.1:n.2309-259_2309-251delinsGTTGACGGA
ENST00000256993.8:c.2309-259_2309-251delinsGTTGACGGA ENSP00000256993.5:n.2309-259_2309-251delinsGTTGACGGA
ENST00000399249.6:c.2309-259_2309-251delinsGTTGACGGA ENSP00000382193.2:n.2309-259_2309-251delinsGTTGACGGA
ENST00000544791.1:c.2309-259_2309-251delinsGTTGACGGA ENSP00000444259.1:n.2309-259_2309-251delinsGTTGACGGA
ENST00000545968.5:c.2309-259_2309-251delinsGTTGACGGA ENSP00000442795.1:n.2309-259_2309-251delinsGTTGACGGA
NM_000256.3:c.2309-259_2309-251delinsGTTGACGGA , LRG_386t1:c.2309-259_2309-251delinsGTTGACGGA MANE Select NP_000247.2:n.2309-259_2309-251delinsGTTGACGGA
XM_011520117.1:c.2291-259_2291-251delinsGTTGACGGA XP_011518419.1:n.2291-259_2291-251delinsGTTGACGGA
XM_011520118.1:c.2228-259_2228-251delinsGTTGACGGA XP_011518420.1:n.2228-259_2228-251delinsGTTGACGGA