Canonical Allele Identifier: CA1969333379

Gene: MYBPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47339659_47339660delinsTA , CM000673.2:g.47339659_47339660delinsTA	GRCh38
NC_000011.9:g.47361210_47361211delinsTA , CM000673.1:g.47361210_47361211delinsTA	GRCh37
NC_000011.8:g.47317786_47317787delinsTA	NCBI36
NG_007667.1:g.18043_18044delinsTA , LRG_386:g.18043_18044delinsTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.2058_2059delinsTA MANE Select	ENSP00000442795.1:p.Ala686=
ENST00000256993.8:c.2058_2059delinsTA	ENSP00000256993.5:p.Ala686=
ENST00000399249.6:c.2058_2059delinsTA	ENSP00000382193.2:p.Ala686=
ENST00000544791.1:c.2058_2059delinsTA	ENSP00000444259.1:p.Ala686=
ENST00000545968.5:c.2058_2059delinsTA	ENSP00000442795.1:p.Ala686=
NM_000256.3:c.2058_2059delinsTA , LRG_386t1:c.2058_2059delinsTA MANE Select	NP_000247.2:p.Ala686=
XM_011520117.1:c.2040_2041delinsTA	XP_011518419.1:p.Ala680=
XM_011520118.1:c.2058_2059delinsTA	XP_011518420.1:p.Ala686=