Canonical Allele Identifier: CA2791322972
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47337880_47337881insACACAC , CM000673.2:g.47337880_47337881insACACAC GRCh38
NC_000011.9:g.47359431_47359432insACACAC , CM000673.1:g.47359431_47359432insACACAC GRCh37
NC_000011.8:g.47316007_47316008insACACAC NCBI36
NG_007667.1:g.19822_19823insGTGTGT , LRG_386:g.19822_19823insGTGTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2309-87_2309-86insGTGTGT MANE Select ENSP00000442795.1:n.2309-87_2309-86insGTGTGT
ENST00000256993.8:c.2309-87_2309-86insGTGTGT ENSP00000256993.5:n.2309-87_2309-86insGTGTGT
ENST00000399249.6:c.2309-87_2309-86insGTGTGT ENSP00000382193.2:n.2309-87_2309-86insGTGTGT
ENST00000544791.1:c.2309-87_2309-86insGTGTGT ENSP00000444259.1:n.2309-87_2309-86insGTGTGT
ENST00000545968.5:c.2309-87_2309-86insGTGTGT ENSP00000442795.1:n.2309-87_2309-86insGTGTGT
NM_000256.3:c.2309-87_2309-86insGTGTGT , LRG_386t1:c.2309-87_2309-86insGTGTGT MANE Select NP_000247.2:n.2309-87_2309-86insGTGTGT
XM_011520117.1:c.2291-87_2291-86insGTGTGT XP_011518419.1:n.2291-87_2291-86insGTGTGT
XM_011520118.1:c.2228-87_2228-86insGTGTGT XP_011518420.1:n.2228-87_2228-86insGTGTGT