Canonical Allele Identifier: CA599374259

Gene: MYBPC3

Linked Data

• dbSNP Id: rs1273411174
• gnomAD v2: 11-47372936-ATGT-A
• gnomAD v4: 11-47351385-ATGT-A
• MyVariant Identifiers: chr11:g.47372937_47372939del (hg19) ; chr11:g.47351386_47351388del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47351386_47351388del , CM000673.2:g.47351386_47351388del	GRCh38
NC_000011.9:g.47372937_47372939del , CM000673.1:g.47372937_47372939del	GRCh37
NC_000011.8:g.47329513_47329515del	NCBI36
NG_007667.1:g.6315_6317del , LRG_386:g.6315_6317del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.143_145del MANE Select	ENSP00000442795.1:p.Asp48_Ile49delinsVal
ENST00000256993.8:c.143_145del	ENSP00000256993.5:p.Asp48_Ile49delinsVal
ENST00000399249.6:c.143_145del	ENSP00000382193.2:p.Asp48_Ile49delinsVal
ENST00000544791.1:c.143_145del	ENSP00000444259.1:p.Asp48_Ile49delinsVal
ENST00000545968.5:c.143_145del	ENSP00000442795.1:p.Asp48_Ile49delinsVal
NM_000256.3:c.143_145del , LRG_386t1:c.143_145del MANE Select	NP_000247.2:p.Asp48_Ile49delinsVal
XM_011520117.1:c.143_145del	XP_011518419.1:p.Asp48_Ile49delinsVal
XM_011520118.1:c.143_145del	XP_011518420.1:p.Asp48_Ile49delinsVal