Canonical Allele Identifier: CA1969333214
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47332086_47332087delinsCG , CM000673.2:g.47332086_47332087delinsCG GRCh38
NC_000011.9:g.47353637_47353638delinsCG , CM000673.1:g.47353637_47353638delinsCG GRCh37
NC_000011.8:g.47310213_47310214delinsCG NCBI36
NG_007667.1:g.25616_25617delinsCG , LRG_386:g.25616_25617delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3799_3800delinsCG MANE Select ENSP00000442795.1:p.Arg1267=
ENST00000256993.8:c.3799_3800delinsCG ENSP00000256993.5:p.Arg1267=
ENST00000399249.6:c.3799_3800delinsCG ENSP00000382193.2:p.Arg1267=
ENST00000545968.5:c.3799_3800delinsCG ENSP00000442795.1:p.Arg1267=
NM_000256.3:c.3799_3800delinsCG , LRG_386t1:c.3799_3800delinsCG MANE Select NP_000247.2:p.Arg1267=
XM_011520117.1:c.3781_3782delinsCG XP_011518419.1:p.Arg1261=
XM_011520118.1:c.3718_3719delinsCG XP_011518420.1:p.Arg1240=