Canonical Allele Identifier: CA2791323261
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47340886_47340887insTC , CM000673.2:g.47340886_47340887insTC GRCh38
NC_000011.9:g.47362437_47362438insTC , CM000673.1:g.47362437_47362438insTC GRCh37
NC_000011.8:g.47319013_47319014insTC NCBI36
NG_007667.1:g.16816_16817insGA , LRG_386:g.16816_16817insGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1927+116_1927+117insGA MANE Select ENSP00000442795.1:n.1927+116_1927+117insGA
ENST00000256993.8:c.1927+116_1927+117insGA ENSP00000256993.5:n.1927+116_1927+117insGA
ENST00000399249.6:c.1927+116_1927+117insGA ENSP00000382193.2:n.1927+116_1927+117insGA
ENST00000544791.1:c.1927+116_1927+117insGA ENSP00000444259.1:n.1927+116_1927+117insGA
ENST00000545968.5:c.1927+116_1927+117insGA ENSP00000442795.1:n.1927+116_1927+117insGA
NM_000256.3:c.1927+116_1927+117insGA , LRG_386t1:c.1927+116_1927+117insGA MANE Select NP_000247.2:n.1927+116_1927+117insGA
XM_011520117.1:c.1909+116_1909+117insGA XP_011518419.1:n.1909+116_1909+117insGA
XM_011520118.1:c.1927+116_1927+117insGA XP_011518420.1:n.1927+116_1927+117insGA