Canonical Allele Identifier: CA915940853

Gene: MYBPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337446_47337453delinsA , CM000673.2:g.47337446_47337453delinsA	GRCh38
NC_000011.9:g.47358997_47359004delinsA , CM000673.1:g.47358997_47359004delinsA	GRCh37
NC_000011.8:g.47315573_47315580delinsA	NCBI36
NG_007667.1:g.20250_20257delinsT , LRG_386:g.20250_20257delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2540_2547delinsT MANE Select	ENSP00000442795.1:p.Tyr847LeufsTer30
ENST00000256993.8:c.2540_2547delinsT	ENSP00000256993.5:p.Tyr847LeufsTer30
ENST00000399249.6:c.2540_2547delinsT	ENSP00000382193.2:p.Tyr847LeufsTer30
ENST00000544791.1:c.*45_*52delinsT	ENSP00000444259.1:n.*45_*52delinsT
ENST00000545968.5:c.2540_2547delinsT	ENSP00000442795.1:p.Tyr847LeufsTer30
NM_000256.3:c.2540_2547delinsT , LRG_386t1:c.2540_2547delinsT MANE Select	NP_000247.2:p.Tyr847LeufsTer30
XM_011520117.1:c.2522_2529delinsT	XP_011518419.1:p.Tyr841LeufsTer30
XM_011520118.1:c.2459_2466delinsT	XP_011518420.1:p.Tyr820LeufsTer30