Canonical Allele Identifier: CA2695212754

Gene: MYBPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337451_47337452del , CM000673.2:g.47337451_47337452del	GRCh38
NC_000011.9:g.47359002_47359003del , CM000673.1:g.47359002_47359003del	GRCh37
NC_000011.8:g.47315578_47315579del	NCBI36
NG_007667.1:g.20253_20254del , LRG_386:g.20253_20254del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2543_2544del MANE Select	ENSP00000442795.1:p.Ala848GlyfsTer?
ENST00000256993.8:c.2543_2544del	ENSP00000256993.5:p.Ala848GlyfsTer?
ENST00000399249.6:c.2543_2544del	ENSP00000382193.2:p.Ala848GlyfsTer?
ENST00000544791.1:c.*48_*49del	ENSP00000444259.1:n.*48_*49del
ENST00000545968.5:c.2543_2544del	ENSP00000442795.1:p.Ala848GlyfsTer?
NM_000256.3:c.2543_2544del , LRG_386t1:c.2543_2544del MANE Select	NP_000247.2:p.Ala848GlyfsTer?
XM_011520117.1:c.2525_2526del	XP_011518419.1:p.Ala842GlyfsTer?
XM_011520118.1:c.2462_2463del	XP_011518420.1:p.Ala821GlyfsTer?