Canonical Allele Identifier: CA078418

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 3075124
• ClinVar RCV Id: RCV004015650
• dbSNP Id: rs776535637
• ExAC: 11:47361354 CAATGTAGTTCAGAG / C
• gnomAD v2: 11-47361354-CAATGTAGTTCAGAG-C
• gnomAD v4: 11-47339803-CAATGTAGTTCAGAG-C
• MyVariant Identifiers: chr11:g.47361355_47361368del (hg19) ; chr11:g.47339804_47339817del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47339806_47339819del , CM000673.2:g.47339806_47339819del	GRCh38
NC_000011.9:g.47361357_47361370del , CM000673.1:g.47361357_47361370del	GRCh37
NC_000011.8:g.47317933_47317946del	NCBI36
NG_007667.1:g.17886_17899del , LRG_386:g.17886_17899del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1928-27_1928-14del MANE Select	ENSP00000442795.1:n.1928-27_1928-14del
ENST00000256993.8:c.1928-27_1928-14del	ENSP00000256993.5:n.1928-27_1928-14del
ENST00000399249.6:c.1928-27_1928-14del	ENSP00000382193.2:n.1928-27_1928-14del
ENST00000544791.1:c.1928-27_1928-14del	ENSP00000444259.1:n.1928-27_1928-14del
ENST00000545968.5:c.1928-27_1928-14del	ENSP00000442795.1:n.1928-27_1928-14del
NM_000256.3:c.1928-27_1928-14del , LRG_386t1:c.1928-27_1928-14del MANE Select	NP_000247.2:n.1928-27_1928-14del
XM_011520117.1:c.1910-27_1910-14del	XP_011518419.1:n.1910-27_1910-14del
XM_011520118.1:c.1928-27_1928-14del	XP_011518420.1:n.1928-27_1928-14del