Canonical Allele Identifier: CA1969335228
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47341926_47341928delinsCCT , CM000673.2:g.47341926_47341928delinsCCT GRCh38
NC_000011.9:g.47363477_47363479delinsCCT , CM000673.1:g.47363477_47363479delinsCCT GRCh37
NC_000011.8:g.47320053_47320055delinsCCT NCBI36
NG_007667.1:g.15775_15777delinsAGG , LRG_386:g.15775_15777delinsAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1790+63_1790+65delinsAGG MANE Select ENSP00000442795.1:n.1790+63_1790+65delinsAGG
ENST00000256993.8:c.1790+63_1790+65delinsAGG ENSP00000256993.5:n.1790+63_1790+65delinsAGG
ENST00000399249.6:c.1790+63_1790+65delinsAGG ENSP00000382193.2:n.1790+63_1790+65delinsAGG
ENST00000544791.1:c.1790+63_1790+65delinsAGG ENSP00000444259.1:n.1790+63_1790+65delinsAGG
ENST00000545968.5:c.1790+63_1790+65delinsAGG ENSP00000442795.1:n.1790+63_1790+65delinsAGG
NM_000256.3:c.1790+63_1790+65delinsAGG , LRG_386t1:c.1790+63_1790+65delinsAGG MANE Select NP_000247.2:n.1790+63_1790+65delinsAGG
XM_011520117.1:c.1772+63_1772+65delinsAGG XP_011518419.1:n.1772+63_1772+65delinsAGG
XM_011520118.1:c.1790+63_1790+65delinsAGG XP_011518420.1:n.1790+63_1790+65delinsAGG