Canonical Allele Identifier: CA1969335229
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47341931_47341935delinsGTCTC , CM000673.2:g.47341931_47341935delinsGTCTC GRCh38
NC_000011.9:g.47363482_47363486delinsGTCTC , CM000673.1:g.47363482_47363486delinsGTCTC GRCh37
NC_000011.8:g.47320058_47320062delinsGTCTC NCBI36
NG_007667.1:g.15768_15772delinsGAGAC , LRG_386:g.15768_15772delinsGAGAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1790+56_1790+60delinsGAGAC MANE Select ENSP00000442795.1:n.1790+56_1790+60delinsGAGAC
ENST00000256993.8:c.1790+56_1790+60delinsGAGAC ENSP00000256993.5:n.1790+56_1790+60delinsGAGAC
ENST00000399249.6:c.1790+56_1790+60delinsGAGAC ENSP00000382193.2:n.1790+56_1790+60delinsGAGAC
ENST00000544791.1:c.1790+56_1790+60delinsGAGAC ENSP00000444259.1:n.1790+56_1790+60delinsGAGAC
ENST00000545968.5:c.1790+56_1790+60delinsGAGAC ENSP00000442795.1:n.1790+56_1790+60delinsGAGAC
NM_000256.3:c.1790+56_1790+60delinsGAGAC , LRG_386t1:c.1790+56_1790+60delinsGAGAC MANE Select NP_000247.2:n.1790+56_1790+60delinsGAGAC
XM_011520117.1:c.1772+56_1772+60delinsGAGAC XP_011518419.1:n.1772+56_1772+60delinsGAGAC
XM_011520118.1:c.1790+56_1790+60delinsGAGAC XP_011518420.1:n.1790+56_1790+60delinsGAGAC