Canonical Allele Identifier: CA1969334391
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47340909_47340910delinsTC , CM000673.2:g.47340909_47340910delinsTC GRCh38
NC_000011.9:g.47362460_47362461delinsTC , CM000673.1:g.47362460_47362461delinsTC GRCh37
NC_000011.8:g.47319036_47319037delinsTC NCBI36
NG_007667.1:g.16793_16794delinsGA , LRG_386:g.16793_16794delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1927+93_1927+94delinsGA MANE Select ENSP00000442795.1:n.1927+93_1927+94delinsGA
ENST00000256993.8:c.1927+93_1927+94delinsGA ENSP00000256993.5:n.1927+93_1927+94delinsGA
ENST00000399249.6:c.1927+93_1927+94delinsGA ENSP00000382193.2:n.1927+93_1927+94delinsGA
ENST00000544791.1:c.1927+93_1927+94delinsGA ENSP00000444259.1:n.1927+93_1927+94delinsGA
ENST00000545968.5:c.1927+93_1927+94delinsGA ENSP00000442795.1:n.1927+93_1927+94delinsGA
NM_000256.3:c.1927+93_1927+94delinsGA , LRG_386t1:c.1927+93_1927+94delinsGA MANE Select NP_000247.2:n.1927+93_1927+94delinsGA
XM_011520117.1:c.1909+93_1909+94delinsGA XP_011518419.1:n.1909+93_1909+94delinsGA
XM_011520118.1:c.1927+93_1927+94delinsGA XP_011518420.1:n.1927+93_1927+94delinsGA