Canonical Allele Identifier: CA2791323251
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47340870_47340871insTA , CM000673.2:g.47340870_47340871insTA GRCh38
NC_000011.9:g.47362421_47362422insTA , CM000673.1:g.47362421_47362422insTA GRCh37
NC_000011.8:g.47318997_47318998insTA NCBI36
NG_007667.1:g.16832_16833insTA , LRG_386:g.16832_16833insTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1927+132_1927+133insTA MANE Select ENSP00000442795.1:n.1927+132_1927+133insTA
ENST00000256993.8:c.1927+132_1927+133insTA ENSP00000256993.5:n.1927+132_1927+133insTA
ENST00000399249.6:c.1927+132_1927+133insTA ENSP00000382193.2:n.1927+132_1927+133insTA
ENST00000544791.1:c.1927+132_1927+133insTA ENSP00000444259.1:n.1927+132_1927+133insTA
ENST00000545968.5:c.1927+132_1927+133insTA ENSP00000442795.1:n.1927+132_1927+133insTA
NM_000256.3:c.1927+132_1927+133insTA , LRG_386t1:c.1927+132_1927+133insTA MANE Select NP_000247.2:n.1927+132_1927+133insTA
XM_011520117.1:c.1909+132_1909+133insTA XP_011518419.1:n.1909+132_1909+133insTA
XM_011520118.1:c.1927+132_1927+133insTA XP_011518420.1:n.1927+132_1927+133insTA