Canonical Allele Identifier: CA1969333778

Gene: MYBPC3

Linked Data

• dbSNP Id: rs2095878019
• gnomAD v4: 11-47332350-GGGGGTCCCACGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47332352_47332363del , CM000673.2:g.47332352_47332363del	GRCh38
NC_000011.9:g.47353903_47353914del , CM000673.1:g.47353903_47353914del	GRCh37
NC_000011.8:g.47310479_47310490del	NCBI36
NG_007667.1:g.25341_25352del , LRG_386:g.25341_25352del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.3628-104_3628-93del MANE Select	ENSP00000442795.1:n.3628-104_3628-93del
ENST00000256993.8:c.3628-104_3628-93del	ENSP00000256993.5:n.3628-104_3628-93del
ENST00000399249.6:c.3628-104_3628-93del	ENSP00000382193.2:n.3628-104_3628-93del
ENST00000545968.5:c.3628-104_3628-93del	ENSP00000442795.1:n.3628-104_3628-93del
NM_000256.3:c.3628-104_3628-93del , LRG_386t1:c.3628-104_3628-93del MANE Select	NP_000247.2:n.3628-104_3628-93del
XM_011520117.1:c.3610-104_3610-93del	XP_011518419.1:n.3610-104_3610-93del
XM_011520118.1:c.3547-104_3547-93del	XP_011518420.1:n.3547-104_3547-93del