Canonical Allele Identifier: CA176845

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 164115
• ClinVar RCV Id: RCV000151135
• dbSNP Id: rs727503201
• MyVariant Identifiers: chr11:g.47364356_47364375del (hg19) ; chr11:g.47342805_47342824del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47342806_47342825del , CM000673.2:g.47342806_47342825del	GRCh38
NC_000011.9:g.47364357_47364376del , CM000673.1:g.47364357_47364376del	GRCh37
NC_000011.8:g.47320933_47320952del	NCBI36
NG_007667.1:g.14879_14898del , LRG_386:g.14879_14898del

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.1457+6_1457+25del MANE Select	ENSP00000442795.1:n.1457+6_1457+25del
ENST00000256993.8:c.1457+6_1457+25del	ENSP00000256993.5:n.1457+6_1457+25del
ENST00000399249.6:c.1457+6_1457+25del	ENSP00000382193.2:n.1457+6_1457+25del
ENST00000544791.1:c.1457+6_1457+25del	ENSP00000444259.1:n.1457+6_1457+25del
ENST00000545968.5:c.1457+6_1457+25del	ENSP00000442795.1:n.1457+6_1457+25del
NM_000256.3:c.1457+6_1457+25del , LRG_386t1:c.1457+6_1457+25del MANE Select	NP_000247.2:n.1457+6_1457+25del
XM_011520117.1:c.1439+6_1439+25del	XP_011518419.1:n.1439+6_1439+25del
XM_011520118.1:c.1457+6_1457+25del	XP_011518420.1:n.1457+6_1457+25del