Canonical Allele Identifier: CA937668479

Gene: MYBPC3

Linked Data

• gnomAD v3: 11-47337347-ACT-A
• gnomAD v4: 11-47337347-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337348_47337349del , CM000673.2:g.47337348_47337349del	GRCh38
NC_000011.9:g.47358899_47358900del , CM000673.1:g.47358899_47358900del	GRCh37
NC_000011.8:g.47315475_47315476del	NCBI36
NG_007667.1:g.20354_20355del , LRG_386:g.20354_20355del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2602+42_2602+43del MANE Select	ENSP00000442795.1:n.2602+42_2602+43del
ENST00000256993.8:c.2602+42_2602+43del	ENSP00000256993.5:n.2602+42_2602+43del
ENST00000399249.6:c.2602+42_2602+43del	ENSP00000382193.2:n.2602+42_2602+43del
ENST00000544791.1:c.*107+42_*107+43del	ENSP00000444259.1:n.*107+42_*107+43del
ENST00000545968.5:c.2602+42_2602+43del	ENSP00000442795.1:n.2602+42_2602+43del
NM_000256.3:c.2602+42_2602+43del , LRG_386t1:c.2602+42_2602+43del MANE Select	NP_000247.2:n.2602+42_2602+43del
XM_011520117.1:c.2584+42_2584+43del	XP_011518419.1:n.2584+42_2584+43del
XM_011520118.1:c.2521+42_2521+43del	XP_011518420.1:n.2521+42_2521+43del