Canonical Allele Identifier: CA2739291457

Gene: MYBPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47332089del , CM000673.2:g.47332089del	GRCh38
NC_000011.9:g.47353640del , CM000673.1:g.47353640del	GRCh37
NC_000011.8:g.47310216del	NCBI36
NG_007667.1:g.25614del , LRG_386:g.25614del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.3797del MANE Select	ENSP00000442795.1:p.Cys1266SerfsTer?
ENST00000256993.8:c.3797del	ENSP00000256993.5:p.Cys1266SerfsTer?
ENST00000399249.6:c.3797del	ENSP00000382193.2:p.Cys1266SerfsTer?
ENST00000545968.5:c.3797del	ENSP00000442795.1:p.Cys1266SerfsTer?
NM_000256.3:c.3797del , LRG_386t1:c.3797del MANE Select	NP_000247.2:p.Cys1266SerfsTer?
XM_011520117.1:c.3779del	XP_011518419.1:p.Cys1260SerfsTer?
XM_011520118.1:c.3716del	XP_011518420.1:p.Cys1239SerfsTer?