Canonical Allele Identifier: CA2791322959
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47343240_47343241insACACCCAACA , CM000673.2:g.47343240_47343241insACACCCAACA GRCh38
NC_000011.9:g.47364791_47364792insACACCCAACA , CM000673.1:g.47364791_47364792insACACCCAACA GRCh37
NC_000011.8:g.47321367_47321368insACACCCAACA NCBI36
NG_007667.1:g.14462_14463insTGTTGGGTGT , LRG_386:g.14462_14463insTGTTGGGTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1226+19_1226+20insTGTTGGGTGT MANE Select ENSP00000442795.1:n.1226+19_1226+20insTGTTGGGTGT
ENST00000256993.8:c.1224-93_1224-92insTGTTGGGTGT ENSP00000256993.5:n.1224-93_1224-92insTGTTGGGTGT
ENST00000399249.6:c.1226+19_1226+20insTGTTGGGTGT ENSP00000382193.2:n.1226+19_1226+20insTGTTGGGTGT
ENST00000544791.1:c.1226+19_1226+20insTGTTGGGTGT ENSP00000444259.1:n.1226+19_1226+20insTGTTGGGTGT
ENST00000545968.5:c.1226+19_1226+20insTGTTGGGTGT ENSP00000442795.1:n.1226+19_1226+20insTGTTGGGTGT
NM_000256.3:c.1226+19_1226+20insTGTTGGGTGT , LRG_386t1:c.1226+19_1226+20insTGTTGGGTGT MANE Select NP_000247.2:n.1226+19_1226+20insTGTTGGGTGT
XM_011520117.1:c.1208+19_1208+20insTGTTGGGTGT XP_011518419.1:n.1208+19_1208+20insTGTTGGGTGT
XM_011520118.1:c.1226+19_1226+20insTGTTGGGTGT XP_011518420.1:n.1226+19_1226+20insTGTTGGGTGT