Canonical Allele Identifier: CA676999106

Gene: MYBPC3

Linked Data

• dbSNP Id: rs1308711523
• gnomAD v3: 11-47341836-CTCTCTGTGGG-C
• gnomAD v4: 11-47341836-CTCTCTGTGGG-C
• MyVariant Identifiers: chr11:g.47363388_47363397del (hg19) ; chr11:g.47341837_47341846del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47341844_47341853del , CM000673.2:g.47341844_47341853del	GRCh38
NC_000011.9:g.47363395_47363404del , CM000673.1:g.47363395_47363404del	GRCh37
NC_000011.8:g.47319971_47319980del	NCBI36
NG_007667.1:g.15857_15866del , LRG_386:g.15857_15866del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1790+145_1790+154del MANE Select	ENSP00000442795.1:n.1790+145_1790+154del
ENST00000256993.8:c.1790+145_1790+154del	ENSP00000256993.5:n.1790+145_1790+154del
ENST00000399249.6:c.1790+145_1790+154del	ENSP00000382193.2:n.1790+145_1790+154del
ENST00000544791.1:c.1790+145_1790+154del	ENSP00000444259.1:n.1790+145_1790+154del
ENST00000545968.5:c.1790+145_1790+154del	ENSP00000442795.1:n.1790+145_1790+154del
NM_000256.3:c.1790+145_1790+154del , LRG_386t1:c.1790+145_1790+154del MANE Select	NP_000247.2:n.1790+145_1790+154del
XM_011520117.1:c.1772+145_1772+154del	XP_011518419.1:n.1772+145_1772+154del
XM_011520118.1:c.1790+145_1790+154del	XP_011518420.1:n.1790+145_1790+154del