Canonical Allele Identifier: CA1969342665
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47351343_47351354delinsCGTGTGCCCTCT , CM000673.2:g.47351343_47351354delinsCGTGTGCCCTCT GRCh38
NC_000011.9:g.47372894_47372905delinsCGTGTGCCCTCT , CM000673.1:g.47372894_47372905delinsCGTGTGCCCTCT GRCh37
NC_000011.8:g.47329470_47329481delinsCGTGTGCCCTCT NCBI36
NG_007667.1:g.6349_6360delinsAGAGGGCACACG , LRG_386:g.6349_6360delinsAGAGGGCACACG

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.177_188delinsAGAGGGCACACG MANE Select ENSP00000442795.1:p.Thr59=
ENST00000256993.8:c.177_188delinsAGAGGGCACACG ENSP00000256993.5:p.Thr59=
ENST00000399249.6:c.177_188delinsAGAGGGCACACG ENSP00000382193.2:p.Thr59=
ENST00000544791.1:c.177_188delinsAGAGGGCACACG ENSP00000444259.1:p.Thr59=
ENST00000545968.5:c.177_188delinsAGAGGGCACACG ENSP00000442795.1:p.Thr59=
NM_000256.3:c.177_188delinsAGAGGGCACACG , LRG_386t1:c.177_188delinsAGAGGGCACACG MANE Select NP_000247.2:p.Thr59=
XM_011520117.1:c.177_188delinsAGAGGGCACACG XP_011518419.1:p.Thr59=
XM_011520118.1:c.177_188delinsAGAGGGCACACG XP_011518420.1:p.Thr59=