Canonical Allele Identifier: CA1969342682

Gene: MYBPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47351368_47351369delinsAC , CM000673.2:g.47351368_47351369delinsAC	GRCh38
NC_000011.9:g.47372919_47372920delinsAC , CM000673.1:g.47372919_47372920delinsAC	GRCh37
NC_000011.8:g.47329495_47329496delinsAC	NCBI36
NG_007667.1:g.6334_6335delinsGT , LRG_386:g.6334_6335delinsGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.162_163delinsGT MANE Select	ENSP00000442795.1:p.Lys54=
ENST00000256993.8:c.162_163delinsGT	ENSP00000256993.5:p.Lys54=
ENST00000399249.6:c.162_163delinsGT	ENSP00000382193.2:p.Lys54=
ENST00000544791.1:c.162_163delinsGT	ENSP00000444259.1:p.Lys54=
ENST00000545968.5:c.162_163delinsGT	ENSP00000442795.1:p.Lys54=
NM_000256.3:c.162_163delinsGT , LRG_386t1:c.162_163delinsGT MANE Select	NP_000247.2:p.Lys54=
XM_011520117.1:c.162_163delinsGT	XP_011518419.1:p.Lys54=
XM_011520118.1:c.162_163delinsGT	XP_011518420.1:p.Lys54=