Canonical Allele Identifier: CA599374386

Gene: MYBPC3

Linked Data

• dbSNP Id: rs1312851427
• gnomAD v2: 11-47363454-T-TTA
• gnomAD v3: 11-47341903-T-TTA
• gnomAD v4: 11-47341903-T-TTA
• MyVariant Identifiers: chr11:g.47363454_47363455insTA (hg19) ; chr11:g.47341903_47341904insTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47341905_47341906dup , CM000673.2:g.47341905_47341906dup	GRCh38
NC_000011.9:g.47363456_47363457dup , CM000673.1:g.47363456_47363457dup	GRCh37
NC_000011.8:g.47320032_47320033dup	NCBI36
NG_007667.1:g.15798_15799dup , LRG_386:g.15798_15799dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1790+86_1790+87dup MANE Select	ENSP00000442795.1:n.1790+86_1790+87dup
ENST00000256993.8:c.1790+86_1790+87dup	ENSP00000256993.5:n.1790+86_1790+87dup
ENST00000399249.6:c.1790+86_1790+87dup	ENSP00000382193.2:n.1790+86_1790+87dup
ENST00000544791.1:c.1790+86_1790+87dup	ENSP00000444259.1:n.1790+86_1790+87dup
ENST00000545968.5:c.1790+86_1790+87dup	ENSP00000442795.1:n.1790+86_1790+87dup
NM_000256.3:c.1790+86_1790+87dup , LRG_386t1:c.1790+86_1790+87dup MANE Select	NP_000247.2:n.1790+86_1790+87dup
XM_011520117.1:c.1772+86_1772+87dup	XP_011518419.1:n.1772+86_1772+87dup
XM_011520118.1:c.1790+86_1790+87dup	XP_011518420.1:n.1790+86_1790+87dup