Canonical Allele Identifier: CA16613417
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 407332
ClinVar RCV Id: RCV000473120
dbSNP Id: rs1064792936

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47351272_47351274delinsCCTCC , CM000673.2:g.47351272_47351274delinsCCTCC GRCh38
NC_000011.9:g.47372823_47372825delinsCCTCC , CM000673.1:g.47372823_47372825delinsCCTCC GRCh37
NC_000011.8:g.47329399_47329401delinsCCTCC NCBI36
NG_007667.1:g.6429_6431delinsGGAGG , LRG_386:g.6429_6431delinsGGAGG

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.257_259delinsGGAGG MANE Select ENSP00000442795.1:p.Ser86TrpfsTer11
ENST00000256993.8:c.257_259delinsGGAGG ENSP00000256993.5:p.Ser86TrpfsTer11
ENST00000399249.6:c.257_259delinsGGAGG ENSP00000382193.2:p.Ser86TrpfsTer11
ENST00000544791.1:c.257_259delinsGGAGG ENSP00000444259.1:p.Ser86TrpfsTer11
ENST00000545968.5:c.257_259delinsGGAGG ENSP00000442795.1:p.Ser86TrpfsTer11
NM_000256.3:c.257_259delinsGGAGG , LRG_386t1:c.257_259delinsGGAGG MANE Select NP_000247.2:p.Ser86TrpfsTer11
XM_011520117.1:c.257_259delinsGGAGG XP_011518419.1:p.Ser86TrpfsTer11
XM_011520118.1:c.257_259delinsGGAGG XP_011518420.1:p.Ser86TrpfsTer11