Canonical Allele Identifier: CA5975371

Gene: MYBPC3

Linked Data

• dbSNP Id: rs759288939
• ExAC: 11:47362620 AGGCAGGGCCCAGTGACAGG / A
• gnomAD v2: 11-47362620-AGGCAGGGCCCAGTGACAGG-A
• gnomAD v4: 11-47341069-AGGCAGGGCCCAGTGACAGG-A
• MyVariant Identifiers: chr11:g.47362621_47362639del (hg19) ; chr11:g.47341070_47341088del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47341073_47341091del , CM000673.2:g.47341073_47341091del	GRCh38
NC_000011.9:g.47362624_47362642del , CM000673.1:g.47362624_47362642del	GRCh37
NC_000011.8:g.47319200_47319218del	NCBI36
NG_007667.1:g.16615_16633del , LRG_386:g.16615_16633del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1897+50_1898-38del MANE Select	ENSP00000442795.1:n.1897+50_1898-38del
ENST00000256993.8:c.1897+50_1898-38del	ENSP00000256993.5:n.1897+50_1898-38del
ENST00000399249.6:c.1897+50_1898-38del	ENSP00000382193.2:n.1897+50_1898-38del
ENST00000544791.1:c.1897+50_1898-38del	ENSP00000444259.1:n.1897+50_1898-38del
ENST00000545968.5:c.1897+50_1898-38del	ENSP00000442795.1:n.1897+50_1898-38del
NM_000256.3:c.1897+50_1898-38del , LRG_386t1:c.1897+50_1898-38del MANE Select	NP_000247.2:n.1897+50_1898-38del
XM_011520117.1:c.1879+50_1880-38del	XP_011518419.1:n.1879+50_1880-38del
XM_011520118.1:c.1897+50_1898-38del	XP_011518420.1:n.1897+50_1898-38del