Canonical Allele Identifier: CA2580615672
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2563092
ClinVar RCV Id: RCV003301253 RCV003748481
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47332103_47332105dup , CM000673.2:g.47332103_47332105dup GRCh38
NC_000011.9:g.47353654_47353656dup , CM000673.1:g.47353654_47353656dup GRCh37
NC_000011.8:g.47310230_47310232dup NCBI36
NG_007667.1:g.25599_25601dup , LRG_386:g.25599_25601dup

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.3782_3784dup MANE Select ENSP00000442795.1:p.Glu1261_Ala1262insGlu
ENST00000256993.8:c.3782_3784dup ENSP00000256993.5:p.Glu1261_Ala1262insGlu
ENST00000399249.6:c.3782_3784dup ENSP00000382193.2:p.Glu1261_Ala1262insGlu
ENST00000545968.5:c.3782_3784dup ENSP00000442795.1:p.Glu1261_Ala1262insGlu
NM_000256.3:c.3782_3784dup , LRG_386t1:c.3782_3784dup MANE Select NP_000247.2:p.Glu1261_Ala1262insGlu
XM_011520117.1:c.3764_3766dup XP_011518419.1:p.Glu1255_Ala1256insGlu
XM_011520118.1:c.3701_3703dup XP_011518420.1:p.Glu1234_Ala1235insGlu
Search 100 bp 5'
Search 100 bp 3'