Canonical Allele Identifier: CA1969333858
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47332430_47332431delinsAG , CM000673.2:g.47332430_47332431delinsAG GRCh38
NC_000011.9:g.47353981_47353982delinsAG , CM000673.1:g.47353981_47353982delinsAG GRCh37
NC_000011.8:g.47310557_47310558delinsAG NCBI36
NG_007667.1:g.25272_25273delinsCT , LRG_386:g.25272_25273delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3627+135_3627+136delinsCT MANE Select ENSP00000442795.1:n.3627+135_3627+136delinsCT
ENST00000256993.8:c.3627+135_3627+136delinsCT ENSP00000256993.5:n.3627+135_3627+136delinsCT
ENST00000399249.6:c.3627+135_3627+136delinsCT ENSP00000382193.2:n.3627+135_3627+136delinsCT
ENST00000545968.5:c.3627+135_3627+136delinsCT ENSP00000442795.1:n.3627+135_3627+136delinsCT
NM_000256.3:c.3627+135_3627+136delinsCT , LRG_386t1:c.3627+135_3627+136delinsCT MANE Select NP_000247.2:n.3627+135_3627+136delinsCT
XM_011520117.1:c.3609+135_3609+136delinsCT XP_011518419.1:n.3609+135_3609+136delinsCT
XM_011520118.1:c.3546+135_3546+136delinsCT XP_011518420.1:n.3546+135_3546+136delinsCT