Canonical Allele Identifier: CA2568269173
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47343169_47343170insTA , CM000673.2:g.47343169_47343170insTA GRCh38
NC_000011.9:g.47364720_47364721insTA , CM000673.1:g.47364720_47364721insTA GRCh37
NC_000011.8:g.47321296_47321297insTA NCBI36
NG_007667.1:g.14533_14534insTA , LRG_386:g.14533_14534insTA

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.1227-25_1227-24insTA MANE Select ENSP00000442795.1:n.1227-25_1227-24insTA
ENST00000256993.8:c.1224-22_1224-21insTA ENSP00000256993.5:n.1224-22_1224-21insTA
ENST00000399249.6:c.1227-25_1227-24insTA ENSP00000382193.2:n.1227-25_1227-24insTA
ENST00000544791.1:c.1227-25_1227-24insTA ENSP00000444259.1:n.1227-25_1227-24insTA
ENST00000545968.5:c.1227-25_1227-24insTA ENSP00000442795.1:n.1227-25_1227-24insTA
NM_000256.3:c.1227-25_1227-24insTA , LRG_386t1:c.1227-25_1227-24insTA MANE Select NP_000247.2:n.1227-25_1227-24insTA
XM_011520117.1:c.1209-25_1209-24insTA XP_011518419.1:n.1209-25_1209-24insTA
XM_011520118.1:c.1227-25_1227-24insTA XP_011518420.1:n.1227-25_1227-24insTA