Canonical Allele Identifier: CA2596115420

Gene: MYBPC3

Linked Data

• gnomAD v3: 11-47343281-CGTTGAAGTGTTCCCGACGG-C
• gnomAD v4: 11-47343281-CGTTGAAGTGTTCCCGACGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47343283_47343301del , CM000673.2:g.47343283_47343301del	GRCh38
NC_000011.9:g.47364834_47364852del , CM000673.1:g.47364834_47364852del	GRCh37
NC_000011.8:g.47321410_47321428del	NCBI36
NG_007667.1:g.14403_14421del , LRG_386:g.14403_14421del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1224-38_1224-20del MANE Select	ENSP00000442795.1:n.1224-38_1224-20del
ENST00000256993.8:c.1224-152_1224-134del	ENSP00000256993.5:n.1224-152_1224-134del
ENST00000399249.6:c.1224-38_1224-20del	ENSP00000382193.2:n.1224-38_1224-20del
ENST00000544791.1:c.1224-38_1224-20del	ENSP00000444259.1:n.1224-38_1224-20del
ENST00000545968.5:c.1224-38_1224-20del	ENSP00000442795.1:n.1224-38_1224-20del
NM_000256.3:c.1224-38_1224-20del , LRG_386t1:c.1224-38_1224-20del MANE Select	NP_000247.2:n.1224-38_1224-20del
XM_011520117.1:c.1206-38_1206-20del	XP_011518419.1:n.1206-38_1206-20del
XM_011520118.1:c.1224-38_1224-20del	XP_011518420.1:n.1224-38_1224-20del