Canonical Allele Identifier: CA2695212750

Gene: MYBPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337433_47337445delinsCGCC , CM000673.2:g.47337433_47337445delinsCGCC	GRCh38
NC_000011.9:g.47358984_47358996delinsCGCC , CM000673.1:g.47358984_47358996delinsCGCC	GRCh37
NC_000011.8:g.47315560_47315572delinsCGCC	NCBI36
NG_007667.1:g.20258_20270delinsGGCG , LRG_386:g.20258_20270delinsGGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2548_2560delinsGGCG MANE Select	ENSP00000442795.1:p.Asn850_Met854delinsGlyVal
ENST00000256993.8:c.2548_2560delinsGGCG	ENSP00000256993.5:p.Asn850_Met854delinsGlyVal
ENST00000399249.6:c.2548_2560delinsGGCG	ENSP00000382193.2:p.Asn850_Met854delinsGlyVal
ENST00000544791.1:c.*53_*65delinsGGCG	ENSP00000444259.1:n.*53_*65delinsGGCG
ENST00000545968.5:c.2548_2560delinsGGCG	ENSP00000442795.1:p.Asn850_Met854delinsGlyVal
NM_000256.3:c.2548_2560delinsGGCG , LRG_386t1:c.2548_2560delinsGGCG MANE Select	NP_000247.2:p.Asn850_Met854delinsGlyVal
XM_011520117.1:c.2530_2542delinsGGCG	XP_011518419.1:p.Asn844_Met848delinsGlyVal
XM_011520118.1:c.2467_2479delinsGGCG	XP_011518420.1:p.Asn823_Met827delinsGlyVal