Canonical Allele Identifier: CA2724174851
Gene: MYBPC3 HGNC NCBI

Linked Data

dbSNP Id: rs2142855724

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47337748_47337750del , CM000673.2:g.47337748_47337750del GRCh38
NC_000011.9:g.47359299_47359301del , CM000673.1:g.47359299_47359301del GRCh37
NC_000011.8:g.47315875_47315877del NCBI36
NG_007667.1:g.19955_19957del , LRG_386:g.19955_19957del

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2355_2357del MANE Select ENSP00000442795.1:p.Glu785del
ENST00000256993.8:c.2355_2357del ENSP00000256993.5:p.Glu785del
ENST00000399249.6:c.2355_2357del ENSP00000382193.2:p.Glu785del
ENST00000544791.1:c.2355_2357del ENSP00000444259.1:p.Glu785del
ENST00000545968.5:c.2355_2357del ENSP00000442795.1:p.Glu785del
NM_000256.3:c.2355_2357del , LRG_386t1:c.2355_2357del MANE Select NP_000247.2:p.Glu785del
XM_011520117.1:c.2337_2339del XP_011518419.1:p.Glu779del
XM_011520118.1:c.2274_2276del XP_011518420.1:p.Glu758del