Canonical Allele Identifier: CA2596115244

Gene: MYBPC3

Linked Data

• gnomAD v3: 11-47339486-CT-C
• gnomAD v4: 11-47339486-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47339487del , CM000673.2:g.47339487del	GRCh38
NC_000011.9:g.47361038del , CM000673.1:g.47361038del	GRCh37
NC_000011.8:g.47317614del	NCBI36
NG_007667.1:g.18216del , LRG_386:g.18216del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2068-83del MANE Select	ENSP00000442795.1:n.2068-83del
ENST00000256993.8:c.2068-83del	ENSP00000256993.5:n.2068-83del
ENST00000399249.6:c.2068-83del	ENSP00000382193.2:n.2068-83del
ENST00000544791.1:c.2068-83del	ENSP00000444259.1:n.2068-83del
ENST00000545968.5:c.2068-83del	ENSP00000442795.1:n.2068-83del
NM_000256.3:c.2068-83del , LRG_386t1:c.2068-83del MANE Select	NP_000247.2:n.2068-83del
XM_011520117.1:c.2050-83del	XP_011518419.1:n.2050-83del
XM_011520118.1:c.2067+164del	XP_011518420.1:n.2067+164del