Canonical Allele Identifier: CA2613401072

Gene: MYBPC3

Linked Data

• gnomAD v4: 11-47341869-GTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47341873_47341874del , CM000673.2:g.47341873_47341874del	GRCh38
NC_000011.9:g.47363424_47363425del , CM000673.1:g.47363424_47363425del	GRCh37
NC_000011.8:g.47320000_47320001del	NCBI36
NG_007667.1:g.15832_15833del , LRG_386:g.15832_15833del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1790+120_1790+121del MANE Select	ENSP00000442795.1:n.1790+120_1790+121del
ENST00000256993.8:c.1790+120_1790+121del	ENSP00000256993.5:n.1790+120_1790+121del
ENST00000399249.6:c.1790+120_1790+121del	ENSP00000382193.2:n.1790+120_1790+121del
ENST00000544791.1:c.1790+120_1790+121del	ENSP00000444259.1:n.1790+120_1790+121del
ENST00000545968.5:c.1790+120_1790+121del	ENSP00000442795.1:n.1790+120_1790+121del
NM_000256.3:c.1790+120_1790+121del , LRG_386t1:c.1790+120_1790+121del MANE Select	NP_000247.2:n.1790+120_1790+121del
XM_011520117.1:c.1772+120_1772+121del	XP_011518419.1:n.1772+120_1772+121del
XM_011520118.1:c.1790+120_1790+121del	XP_011518420.1:n.1790+120_1790+121del