Canonical Allele Identifier: CA1969335131
Gene: MYBPC3 HGNC NCBI

Linked Data

dbSNP Id: rs2095888813

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47341778_47341797del , CM000673.2:g.47341778_47341797del GRCh38
NC_000011.9:g.47363329_47363348del , CM000673.1:g.47363329_47363348del GRCh37
NC_000011.8:g.47319905_47319924del NCBI36
NG_007667.1:g.15915_15934del , LRG_386:g.15915_15934del

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1790+203_1790+222del MANE Select ENSP00000442795.1:n.1790+203_1790+222del
ENST00000256993.8:c.1790+203_1790+222del ENSP00000256993.5:n.1790+203_1790+222del
ENST00000399249.6:c.1790+203_1790+222del ENSP00000382193.2:n.1790+203_1790+222del
ENST00000544791.1:c.1790+203_1790+222del ENSP00000444259.1:n.1790+203_1790+222del
ENST00000545968.5:c.1790+203_1790+222del ENSP00000442795.1:n.1790+203_1790+222del
NM_000256.3:c.1790+203_1790+222del , LRG_386t1:c.1790+203_1790+222del MANE Select NP_000247.2:n.1790+203_1790+222del
XM_011520117.1:c.1772+203_1772+222del XP_011518419.1:n.1772+203_1772+222del
XM_011520118.1:c.1790+203_1790+222del XP_011518420.1:n.1790+203_1790+222del