Canonical Allele Identifier: CA1969337235
Gene: MYBPC3 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47335207_47335208delinsAG , CM000673.2:g.47335207_47335208delinsAG GRCh38
NC_000011.9:g.47356758_47356759delinsAG , CM000673.1:g.47356758_47356759delinsAG GRCh37
NC_000011.8:g.47313334_47313335delinsAG NCBI36
NG_007667.1:g.22495_22496delinsCT , LRG_386:g.22495_22496delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2739_2740delinsCT MANE Select ENSP00000442795.1:p.Cys913=
ENST00000256993.8:c.2739_2740delinsCT ENSP00000256993.5:p.Cys913=
ENST00000399249.6:c.2739_2740delinsCT ENSP00000382193.2:p.Cys913=
ENST00000545968.5:c.2739_2740delinsCT ENSP00000442795.1:p.Cys913=
NM_000256.3:c.2739_2740delinsCT , LRG_386t1:c.2739_2740delinsCT MANE Select NP_000247.2:p.Cys913=
XM_011520117.1:c.2721_2722delinsCT XP_011518419.1:p.Cys907=
XM_011520118.1:c.2658_2659delinsCT XP_011518420.1:p.Cys886=
Search 100 bp 5'
Search 100 bp 3'