Canonical Allele Identifier: CA2695214001

Gene: MYBPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47351250del , CM000673.2:g.47351250del	GRCh38
NC_000011.9:g.47372801del , CM000673.1:g.47372801del	GRCh37
NC_000011.8:g.47329377del	NCBI36
NG_007667.1:g.6453del , LRG_386:g.6453del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.281del MANE Select	ENSP00000442795.1:p.Val94AlafsTer2
ENST00000256993.8:c.281del	ENSP00000256993.5:p.Val94AlafsTer2
ENST00000399249.6:c.281del	ENSP00000382193.2:p.Val94AlafsTer2
ENST00000544791.1:c.281del	ENSP00000444259.1:p.Val94AlafsTer2
ENST00000545968.5:c.281del	ENSP00000442795.1:p.Val94AlafsTer2
NM_000256.3:c.281del , LRG_386t1:c.281del MANE Select	NP_000247.2:p.Val94AlafsTer2
XM_011520117.1:c.281del	XP_011518419.1:p.Val94AlafsTer2
XM_011520118.1:c.281del	XP_011518420.1:p.Val94AlafsTer2