Canonical Allele Identifier: CA1969340045

Gene: MYBPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337479_47337483delinsCTCGA , CM000673.2:g.47337479_47337483delinsCTCGA	GRCh38
NC_000011.9:g.47359030_47359034delinsCTCGA , CM000673.1:g.47359030_47359034delinsCTCGA	GRCh37
NC_000011.8:g.47315606_47315610delinsCTCGA	NCBI36
NG_007667.1:g.20220_20224delinsTCGAG , LRG_386:g.20220_20224delinsTCGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2510_2514delinsTCGAG MANE Select	ENSP00000442795.1:p.Ile837=
ENST00000256993.8:c.2510_2514delinsTCGAG	ENSP00000256993.5:p.Ile837=
ENST00000399249.6:c.2510_2514delinsTCGAG	ENSP00000382193.2:p.Ile837=
ENST00000544791.1:c.*15_*19delinsTCGAG	ENSP00000444259.1:n.*15_*19delinsTCGAG
ENST00000545968.5:c.2510_2514delinsTCGAG	ENSP00000442795.1:p.Ile837=
NM_000256.3:c.2510_2514delinsTCGAG , LRG_386t1:c.2510_2514delinsTCGAG MANE Select	NP_000247.2:p.Ile837=
XM_011520117.1:c.2492_2496delinsTCGAG	XP_011518419.1:p.Ile831=
XM_011520118.1:c.2429_2433delinsTCGAG	XP_011518420.1:p.Ile810=