Canonical Allele Identifier: CA1969331682
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47337902_47337903delinsAC , CM000673.2:g.47337902_47337903delinsAC GRCh38
NC_000011.9:g.47359453_47359454delinsAC , CM000673.1:g.47359453_47359454delinsAC GRCh37
NC_000011.8:g.47316029_47316030delinsAC NCBI36
NG_007667.1:g.19800_19801delinsGT , LRG_386:g.19800_19801delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2309-109_2309-108delinsGT MANE Select ENSP00000442795.1:n.2309-109_2309-108delinsGT
ENST00000256993.8:c.2309-109_2309-108delinsGT ENSP00000256993.5:n.2309-109_2309-108delinsGT
ENST00000399249.6:c.2309-109_2309-108delinsGT ENSP00000382193.2:n.2309-109_2309-108delinsGT
ENST00000544791.1:c.2309-109_2309-108delinsGT ENSP00000444259.1:n.2309-109_2309-108delinsGT
ENST00000545968.5:c.2309-109_2309-108delinsGT ENSP00000442795.1:n.2309-109_2309-108delinsGT
NM_000256.3:c.2309-109_2309-108delinsGT , LRG_386t1:c.2309-109_2309-108delinsGT MANE Select NP_000247.2:n.2309-109_2309-108delinsGT
XM_011520117.1:c.2291-109_2291-108delinsGT XP_011518419.1:n.2291-109_2291-108delinsGT
XM_011520118.1:c.2228-109_2228-108delinsGT XP_011518420.1:n.2228-109_2228-108delinsGT