Canonical Allele Identifier: CA1969333817

Gene: MYBPC3

Linked Data

• dbSNP Id: rs2095878068
• gnomAD v4: 11-47332396-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47332397_47332398del , CM000673.2:g.47332397_47332398del	GRCh38
NC_000011.9:g.47353948_47353949del , CM000673.1:g.47353948_47353949del	GRCh37
NC_000011.8:g.47310524_47310525del	NCBI36
NG_007667.1:g.25305_25306del , LRG_386:g.25305_25306del

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.3628-140_3628-139del MANE Select	ENSP00000442795.1:n.3628-140_3628-139del
ENST00000256993.8:c.3628-140_3628-139del	ENSP00000256993.5:n.3628-140_3628-139del
ENST00000399249.6:c.3628-140_3628-139del	ENSP00000382193.2:n.3628-140_3628-139del
ENST00000545968.5:c.3628-140_3628-139del	ENSP00000442795.1:n.3628-140_3628-139del
NM_000256.3:c.3628-140_3628-139del , LRG_386t1:c.3628-140_3628-139del MANE Select	NP_000247.2:n.3628-140_3628-139del
XM_011520117.1:c.3610-140_3610-139del	XP_011518419.1:n.3610-140_3610-139del
XM_011520118.1:c.3547-140_3547-139del	XP_011518420.1:n.3547-140_3547-139del