Canonical Allele Identifier: CA16613639
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 407318
dbSNP Id: rs1060501479

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47351465_47351466insC , CM000673.2:g.47351465_47351466insC GRCh38
NC_000011.9:g.47373016_47373017insC , CM000673.1:g.47373016_47373017insC GRCh37
NC_000011.8:g.47329592_47329593insC NCBI36
NG_007667.1:g.6237_6238insG , LRG_386:g.6237_6238insG

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.65_66insG MANE Select ENSP00000442795.1:p.Ala23ArgfsTer26
ENST00000256993.8:c.65_66insG ENSP00000256993.5:p.Ala23ArgfsTer26
ENST00000399249.6:c.65_66insG ENSP00000382193.2:p.Ala23ArgfsTer26
ENST00000544791.1:c.65_66insG ENSP00000444259.1:p.Ala23ArgfsTer26
ENST00000545968.5:c.65_66insG ENSP00000442795.1:p.Ala23ArgfsTer26
NM_000256.3:c.65_66insG , LRG_386t1:c.65_66insG MANE Select NP_000247.2:p.Ala23ArgfsTer26
XM_011520117.1:c.65_66insG XP_011518419.1:p.Ala23ArgfsTer26
XM_011520118.1:c.65_66insG XP_011518420.1:p.Ala23ArgfsTer26