Canonical Allele Identifier: CA599374388

Gene: MYBPC3

Linked Data

• dbSNP Id: rs1464589816
• gnomAD v2: 11-47363477-CCT-C
• MyVariant Identifiers: chr11:g.47363478_47363479del (hg19) ; chr11:g.47341927_47341928del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47341927_47341928del , CM000673.2:g.47341927_47341928del	GRCh38
NC_000011.9:g.47363478_47363479del , CM000673.1:g.47363478_47363479del	GRCh37
NC_000011.8:g.47320054_47320055del	NCBI36
NG_007667.1:g.15775_15776del , LRG_386:g.15775_15776del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1790+63_1790+64del MANE Select	ENSP00000442795.1:n.1790+63_1790+64del
ENST00000256993.8:c.1790+63_1790+64del	ENSP00000256993.5:n.1790+63_1790+64del
ENST00000399249.6:c.1790+63_1790+64del	ENSP00000382193.2:n.1790+63_1790+64del
ENST00000544791.1:c.1790+63_1790+64del	ENSP00000444259.1:n.1790+63_1790+64del
ENST00000545968.5:c.1790+63_1790+64del	ENSP00000442795.1:n.1790+63_1790+64del
NM_000256.3:c.1790+63_1790+64del , LRG_386t1:c.1790+63_1790+64del MANE Select	NP_000247.2:n.1790+63_1790+64del
XM_011520117.1:c.1772+63_1772+64del	XP_011518419.1:n.1772+63_1772+64del
XM_011520118.1:c.1790+63_1790+64del	XP_011518420.1:n.1790+63_1790+64del