Canonical Allele Identifier: CA2838688132
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47339695del , CM000673.2:g.47339695del GRCh38
NC_000011.9:g.47361246del , CM000673.1:g.47361246del GRCh37
NC_000011.8:g.47317822del NCBI36
NG_007667.1:g.18011del , LRG_386:g.18011del

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2026del MANE Select ENSP00000442795.1:p.Asp676ThrfsTer6
ENST00000256993.8:c.2026del ENSP00000256993.5:p.Asp676ThrfsTer6
ENST00000399249.6:c.2026del ENSP00000382193.2:p.Asp676ThrfsTer6
ENST00000544791.1:c.2026del ENSP00000444259.1:p.Asp676ThrfsTer6
ENST00000545968.5:c.2026del ENSP00000442795.1:p.Asp676ThrfsTer6
NM_000256.3:c.2026del , LRG_386t1:c.2026del MANE Select NP_000247.2:p.Asp676ThrfsTer6
XM_011520117.1:c.2008del XP_011518419.1:p.Asp670ThrfsTer6
XM_011520118.1:c.2026del XP_011518420.1:p.Asp676ThrfsTer6