Canonical Allele Identifier: CA2613401330
Gene: MYBPC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47351200_47351201insCCCCCC , CM000673.2:g.47351200_47351201insCCCCCC GRCh38
NC_000011.9:g.47372751_47372752insCCCCCC , CM000673.1:g.47372751_47372752insCCCCCC GRCh37
NC_000011.8:g.47329327_47329328insCCCCCC NCBI36
NG_007667.1:g.6502_6503insGGGGGG , LRG_386:g.6502_6503insGGGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.292+38_292+39insGGGGGG MANE Select ENSP00000442795.1:n.292+38_292+39insGGGGGG
ENST00000256993.8:c.292+38_292+39insGGGGGG ENSP00000256993.5:n.292+38_292+39insGGGGGG
ENST00000399249.6:c.292+38_292+39insGGGGGG ENSP00000382193.2:n.292+38_292+39insGGGGGG
ENST00000544791.1:c.292+38_292+39insGGGGGG ENSP00000444259.1:n.292+38_292+39insGGGGGG
ENST00000545968.5:c.292+38_292+39insGGGGGG ENSP00000442795.1:n.292+38_292+39insGGGGGG
NM_000256.3:c.292+38_292+39insGGGGGG , LRG_386t1:c.292+38_292+39insGGGGGG MANE Select NP_000247.2:n.292+38_292+39insGGGGGG
XM_011520117.1:c.292+38_292+39insGGGGGG XP_011518419.1:n.292+38_292+39insGGGGGG
XM_011520118.1:c.292+38_292+39insGGGGGG XP_011518420.1:n.292+38_292+39insGGGGGG