Canonical Allele Identifier: CA1969335138
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47341783_47341784delinsGA , CM000673.2:g.47341783_47341784delinsGA GRCh38
NC_000011.9:g.47363334_47363335delinsGA , CM000673.1:g.47363334_47363335delinsGA GRCh37
NC_000011.8:g.47319910_47319911delinsGA NCBI36
NG_007667.1:g.15919_15920delinsTC , LRG_386:g.15919_15920delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1790+207_1790+208delinsTC MANE Select ENSP00000442795.1:n.1790+207_1790+208delinsTC
ENST00000256993.8:c.1790+207_1790+208delinsTC ENSP00000256993.5:n.1790+207_1790+208delinsTC
ENST00000399249.6:c.1790+207_1790+208delinsTC ENSP00000382193.2:n.1790+207_1790+208delinsTC
ENST00000544791.1:c.1790+207_1790+208delinsTC ENSP00000444259.1:n.1790+207_1790+208delinsTC
ENST00000545968.5:c.1790+207_1790+208delinsTC ENSP00000442795.1:n.1790+207_1790+208delinsTC
NM_000256.3:c.1790+207_1790+208delinsTC , LRG_386t1:c.1790+207_1790+208delinsTC MANE Select NP_000247.2:n.1790+207_1790+208delinsTC
XM_011520117.1:c.1772+207_1772+208delinsTC XP_011518419.1:n.1772+207_1772+208delinsTC
XM_011520118.1:c.1790+207_1790+208delinsTC XP_011518420.1:n.1790+207_1790+208delinsTC