Canonical Allele Identifier: CA1969342685

Gene: MYBPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47351380_47351386delinsCGCTGAT , CM000673.2:g.47351380_47351386delinsCGCTGAT	GRCh38
NC_000011.9:g.47372931_47372937delinsCGCTGAT , CM000673.1:g.47372931_47372937delinsCGCTGAT	GRCh37
NC_000011.8:g.47329507_47329513delinsCGCTGAT	NCBI36
NG_007667.1:g.6317_6323delinsATCAGCG , LRG_386:g.6317_6323delinsATCAGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.145_151delinsATCAGCG MANE Select	ENSP00000442795.1:p.Ile49=
ENST00000256993.8:c.145_151delinsATCAGCG	ENSP00000256993.5:p.Ile49=
ENST00000399249.6:c.145_151delinsATCAGCG	ENSP00000382193.2:p.Ile49=
ENST00000544791.1:c.145_151delinsATCAGCG	ENSP00000444259.1:p.Ile49=
ENST00000545968.5:c.145_151delinsATCAGCG	ENSP00000442795.1:p.Ile49=
NM_000256.3:c.145_151delinsATCAGCG , LRG_386t1:c.145_151delinsATCAGCG MANE Select	NP_000247.2:p.Ile49=
XM_011520117.1:c.145_151delinsATCAGCG	XP_011518419.1:p.Ile49=
XM_011520118.1:c.145_151delinsATCAGCG	XP_011518420.1:p.Ile49=