Canonical Allele Identifier: CA2695213904

Gene: MYBPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47332575_47332576del , CM000673.2:g.47332575_47332576del	GRCh38
NC_000011.9:g.47354126_47354127del , CM000673.1:g.47354126_47354127del	GRCh37
NC_000011.8:g.47310702_47310703del	NCBI36
NG_007667.1:g.25127_25128del , LRG_386:g.25127_25128del

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.3617_3618del MANE Select	ENSP00000442795.1:p.Gly1206GlufsTer?
ENST00000256993.8:c.3617_3618del	ENSP00000256993.5:p.Gly1206GlufsTer?
ENST00000399249.6:c.3617_3618del	ENSP00000382193.2:p.Gly1206GlufsTer?
ENST00000545968.5:c.3617_3618del	ENSP00000442795.1:p.Gly1206GlufsTer?
NM_000256.3:c.3617_3618del , LRG_386t1:c.3617_3618del MANE Select	NP_000247.2:p.Gly1206GlufsTer?
XM_011520117.1:c.3599_3600del	XP_011518419.1:p.Gly1200GlufsTer?
XM_011520118.1:c.3536_3537del	XP_011518420.1:p.Gly1179GlufsTer?