Canonical Allele Identifier: CA645594751

Gene: MYBPC3

Linked Data

• COSMIC: COSM5838656 ; COSM5838657

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47351253_47351255del , CM000673.2:g.47351253_47351255del	GRCh38
NC_000011.9:g.47372804_47372806del , CM000673.1:g.47372804_47372806del	GRCh37
NC_000011.8:g.47329380_47329382del	NCBI36
NG_007667.1:g.6448_6450del , LRG_386:g.6448_6450del

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.276_278del MANE Select	ENSP00000442795.1:p.Lys93del
ENST00000256993.8:c.276_278del	ENSP00000256993.5:p.Lys93del
ENST00000399249.6:c.276_278del	ENSP00000382193.2:p.Lys93del
ENST00000544791.1:c.276_278del	ENSP00000444259.1:p.Lys93del
ENST00000545968.5:c.276_278del	ENSP00000442795.1:p.Lys93del
NM_000256.3:c.276_278del , LRG_386t1:c.276_278del MANE Select	NP_000247.2:p.Lys93del
XM_011520117.1:c.276_278del	XP_011518419.1:p.Lys93del
XM_011520118.1:c.276_278del	XP_011518420.1:p.Lys93del