Canonical Allele Identifier: CA2695214011

Gene: MYBPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47351458del , CM000673.2:g.47351458del	GRCh38
NC_000011.9:g.47373009del , CM000673.1:g.47373009del	GRCh37
NC_000011.8:g.47329585del	NCBI36
NG_007667.1:g.6245del , LRG_386:g.6245del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.73del MANE Select	ENSP00000442795.1:p.Ser25AlafsTer14
ENST00000256993.8:c.73del	ENSP00000256993.5:p.Ser25AlafsTer14
ENST00000399249.6:c.73del	ENSP00000382193.2:p.Ser25AlafsTer14
ENST00000544791.1:c.73del	ENSP00000444259.1:p.Ser25AlafsTer14
ENST00000545968.5:c.73del	ENSP00000442795.1:p.Ser25AlafsTer14
NM_000256.3:c.73del , LRG_386t1:c.73del MANE Select	NP_000247.2:p.Ser25AlafsTer14
XM_011520117.1:c.73del	XP_011518419.1:p.Ser25AlafsTer14
XM_011520118.1:c.73del	XP_011518420.1:p.Ser25AlafsTer14