Canonical Allele Identifier: CA1969333279

Gene: MYBPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47339485_47339487delinsCCT , CM000673.2:g.47339485_47339487delinsCCT	GRCh38
NC_000011.9:g.47361036_47361038delinsCCT , CM000673.1:g.47361036_47361038delinsCCT	GRCh37
NC_000011.8:g.47317612_47317614delinsCCT	NCBI36
NG_007667.1:g.18216_18218delinsAGG , LRG_386:g.18216_18218delinsAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2068-83_2068-81delinsAGG MANE Select	ENSP00000442795.1:n.2068-83_2068-81delinsAGG
ENST00000256993.8:c.2068-83_2068-81delinsAGG	ENSP00000256993.5:n.2068-83_2068-81delinsAGG
ENST00000399249.6:c.2068-83_2068-81delinsAGG	ENSP00000382193.2:n.2068-83_2068-81delinsAGG
ENST00000544791.1:c.2068-83_2068-81delinsAGG	ENSP00000444259.1:n.2068-83_2068-81delinsAGG
ENST00000545968.5:c.2068-83_2068-81delinsAGG	ENSP00000442795.1:n.2068-83_2068-81delinsAGG
NM_000256.3:c.2068-83_2068-81delinsAGG , LRG_386t1:c.2068-83_2068-81delinsAGG MANE Select	NP_000247.2:n.2068-83_2068-81delinsAGG
XM_011520117.1:c.2050-83_2050-81delinsAGG	XP_011518419.1:n.2050-83_2050-81delinsAGG
XM_011520118.1:c.2067+164_2067+166delinsAGG	XP_011518420.1:n.2067+164_2067+166delinsAGG