Canonical Allele Identifier: CA1969335930

Gene: MYBPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47333706_47333707delinsAG , CM000673.2:g.47333706_47333707delinsAG	GRCh38
NC_000011.9:g.47355257_47355258delinsAG , CM000673.1:g.47355257_47355258delinsAG	GRCh37
NC_000011.8:g.47311833_47311834delinsAG	NCBI36
NG_007667.1:g.23996_23997delinsCT , LRG_386:g.23996_23997delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.3040_3041delinsCT MANE Select	ENSP00000442795.1:p.Leu1014=
ENST00000256993.8:c.3040_3041delinsCT	ENSP00000256993.5:p.Leu1014=
ENST00000399249.6:c.3040_3041delinsCT	ENSP00000382193.2:p.Leu1014=
ENST00000545968.5:c.3040_3041delinsCT	ENSP00000442795.1:p.Leu1014=
NM_000256.3:c.3040_3041delinsCT , LRG_386t1:c.3040_3041delinsCT MANE Select	NP_000247.2:p.Leu1014=
XM_011520117.1:c.3022_3023delinsCT	XP_011518419.1:p.Leu1008=
XM_011520118.1:c.2959_2960delinsCT	XP_011518420.1:p.Leu987=