Canonical Allele Identifier: CA2695214010
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47351421_47351431dup , CM000673.2:g.47351421_47351431dup GRCh38
NC_000011.9:g.47372972_47372982dup , CM000673.1:g.47372972_47372982dup GRCh37
NC_000011.8:g.47329548_47329558dup NCBI36
NG_007667.1:g.6272_6282dup , LRG_386:g.6272_6282dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.100_110dup MANE Select ENSP00000442795.1:p.Val38SerfsTer5
ENST00000256993.8:c.100_110dup ENSP00000256993.5:p.Val38SerfsTer5
ENST00000399249.6:c.100_110dup ENSP00000382193.2:p.Val38SerfsTer5
ENST00000544791.1:c.100_110dup ENSP00000444259.1:p.Val38SerfsTer5
ENST00000545968.5:c.100_110dup ENSP00000442795.1:p.Val38SerfsTer5
NM_000256.3:c.100_110dup , LRG_386t1:c.100_110dup MANE Select NP_000247.2:p.Val38SerfsTer5
XM_011520117.1:c.100_110dup XP_011518419.1:p.Val38SerfsTer5
XM_011520118.1:c.100_110dup XP_011518420.1:p.Val38SerfsTer5