Canonical Allele Identifier: CA2613400420

Gene: MYBPC3

Linked Data

• gnomAD v4: 11-47337354-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337359del , CM000673.2:g.47337359del	GRCh38
NC_000011.9:g.47358910del , CM000673.1:g.47358910del	GRCh37
NC_000011.8:g.47315486del	NCBI36
NG_007667.1:g.20348del , LRG_386:g.20348del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2602+36del MANE Select	ENSP00000442795.1:n.2602+36del
ENST00000256993.8:c.2602+36del	ENSP00000256993.5:n.2602+36del
ENST00000399249.6:c.2602+36del	ENSP00000382193.2:n.2602+36del
ENST00000544791.1:c.*107+36del	ENSP00000444259.1:n.*107+36del
ENST00000545968.5:c.2602+36del	ENSP00000442795.1:n.2602+36del
NM_000256.3:c.2602+36del , LRG_386t1:c.2602+36del MANE Select	NP_000247.2:n.2602+36del
XM_011520117.1:c.2584+36del	XP_011518419.1:n.2584+36del
XM_011520118.1:c.2521+36del	XP_011518420.1:n.2521+36del