Canonical Allele Identifier: CA1969335280

Gene: MYBPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47342003_47342005delinsGAC , CM000673.2:g.47342003_47342005delinsGAC	GRCh38
NC_000011.9:g.47363554_47363556delinsGAC , CM000673.1:g.47363554_47363556delinsGAC	GRCh37
NC_000011.8:g.47320130_47320132delinsGAC	NCBI36
NG_007667.1:g.15698_15700delinsGTC , LRG_386:g.15698_15700delinsGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1776_1778delinsGTC MANE Select	ENSP00000442795.1:p.Val592=
ENST00000256993.8:c.1776_1778delinsGTC	ENSP00000256993.5:p.Val592=
ENST00000399249.6:c.1776_1778delinsGTC	ENSP00000382193.2:p.Val592=
ENST00000544791.1:c.1776_1778delinsGTC	ENSP00000444259.1:p.Val592=
ENST00000545968.5:c.1776_1778delinsGTC	ENSP00000442795.1:p.Val592=
NM_000256.3:c.1776_1778delinsGTC , LRG_386t1:c.1776_1778delinsGTC MANE Select	NP_000247.2:p.Val592=
XM_011520117.1:c.1758_1760delinsGTC	XP_011518419.1:p.Val586=
XM_011520118.1:c.1776_1778delinsGTC	XP_011518420.1:p.Val592=