Canonical Allele Identifier: CA1969333475

Gene: MYBPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47332194_47332196delinsCTG , CM000673.2:g.47332194_47332196delinsCTG	GRCh38
NC_000011.9:g.47353745_47353747delinsCTG , CM000673.1:g.47353745_47353747delinsCTG	GRCh37
NC_000011.8:g.47310321_47310323delinsCTG	NCBI36
NG_007667.1:g.25507_25509delinsCAG , LRG_386:g.25507_25509delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.3690_3692delinsCAG MANE Select	ENSP00000442795.1:p.Phe1230=
ENST00000256993.8:c.3690_3692delinsCAG	ENSP00000256993.5:p.Phe1230=
ENST00000399249.6:c.3690_3692delinsCAG	ENSP00000382193.2:p.Phe1230=
ENST00000545968.5:c.3690_3692delinsCAG	ENSP00000442795.1:p.Phe1230=
NM_000256.3:c.3690_3692delinsCAG , LRG_386t1:c.3690_3692delinsCAG MANE Select	NP_000247.2:p.Phe1230=
XM_011520117.1:c.3672_3674delinsCAG	XP_011518419.1:p.Phe1224=
XM_011520118.1:c.3609_3611delinsCAG	XP_011518420.1:p.Phe1203=