Canonical Allele Identifier: CA1969335045

Gene: MYBPC3

Linked Data

• dbSNP Id: rs2095878901
• gnomAD v4: 11-47333174-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47333178del , CM000673.2:g.47333178del	GRCh38
NC_000011.9:g.47354729del , CM000673.1:g.47354729del	GRCh37
NC_000011.8:g.47311305del	NCBI36
NG_007667.1:g.24528del , LRG_386:g.24528del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.3330+19del MANE Select	ENSP00000442795.1:n.3330+19del
ENST00000256993.8:c.3330+19del	ENSP00000256993.5:n.3330+19del
ENST00000399249.6:c.3330+19del	ENSP00000382193.2:n.3330+19del
ENST00000545968.5:c.3330+19del	ENSP00000442795.1:n.3330+19del
NM_000256.3:c.3330+19del , LRG_386t1:c.3330+19del MANE Select	NP_000247.2:n.3330+19del
XM_011520117.1:c.3312+19del	XP_011518419.1:n.3312+19del
XM_011520118.1:c.3249+19del	XP_011518420.1:n.3249+19del