Canonical Allele Identifier: CA2573051137

Gene: MYBPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47348537_47348540del , CM000673.2:g.47348537_47348540del	GRCh38
NC_000011.9:g.47370088_47370091del , CM000673.1:g.47370088_47370091del	GRCh37
NC_000011.8:g.47326664_47326667del	NCBI36
NG_007667.1:g.9166_9169del , LRG_386:g.9166_9169del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.659_662del MANE Select	ENSP00000442795.1:p.Tyr220CysfsTer?
ENST00000256993.8:c.659_662del	ENSP00000256993.5:p.Tyr220CysfsTer?
ENST00000399249.6:c.659_662del	ENSP00000382193.2:p.Tyr220CysfsTer?
ENST00000544791.1:c.659_662del	ENSP00000444259.1:p.Tyr220CysfsTer?
ENST00000545968.5:c.659_662del	ENSP00000442795.1:p.Tyr220CysfsTer?
NM_000256.3:c.659_662del , LRG_386t1:c.659_662del MANE Select	NP_000247.2:p.Tyr220CysfsTer?
XM_011520117.1:c.659_662del	XP_011518419.1:p.Tyr220CysfsTer?
XM_011520118.1:c.659_662del	XP_011518420.1:p.Tyr220CysfsTer?