Canonical Allele Identifier: CA1139659378

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 927887
• ClinVar RCV Id: RCV001191459
• dbSNP Id: rs2095876441
• gnomAD v4: 11-47331855-CCAGGAGCCAGCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47331856_47331868del , CM000673.2:g.47331856_47331868del	GRCh38
NC_000011.9:g.47353407_47353419del , CM000673.1:g.47353407_47353419del	GRCh37
NC_000011.8:g.47309983_47309995del	NCBI36
NG_007667.1:g.25835_25847del , LRG_386:g.25835_25847del
NG_029462.1:g.67481_67493del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.*3_*15del MANE Select	ENSP00000442795.1:n.*3_*15del
ENST00000256993.8:c.*3_*15del	ENSP00000256993.5:n.*3_*15del
ENST00000399249.6:c.*3_*15del	ENSP00000382193.2:n.*3_*15del
ENST00000545968.5:c.*3_*15del	ENSP00000442795.1:n.*3_*15del
NM_000256.3:c.*3_*15del , LRG_386t1:c.*3_*15del MANE Select	NP_000247.2:n.*3_*15del
XM_011520117.1:c.*3_*15del	XP_011518419.1:n.*3_*15del
XM_011520118.1:c.*3_*15del	XP_011518420.1:n.*3_*15del