Canonical Allele Identifier: CA1969342606
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47351254_47351256delinsTGA , CM000673.2:g.47351254_47351256delinsTGA GRCh38
NC_000011.9:g.47372805_47372807delinsTGA , CM000673.1:g.47372805_47372807delinsTGA GRCh37
NC_000011.8:g.47329381_47329383delinsTGA NCBI36
NG_007667.1:g.6447_6449delinsTCA , LRG_386:g.6447_6449delinsTCA

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.275_277delinsTCA MANE Select ENSP00000442795.1:p.Leu92=
ENST00000256993.8:c.275_277delinsTCA ENSP00000256993.5:p.Leu92=
ENST00000399249.6:c.275_277delinsTCA ENSP00000382193.2:p.Leu92=
ENST00000544791.1:c.275_277delinsTCA ENSP00000444259.1:p.Leu92=
ENST00000545968.5:c.275_277delinsTCA ENSP00000442795.1:p.Leu92=
NM_000256.3:c.275_277delinsTCA , LRG_386t1:c.275_277delinsTCA MANE Select NP_000247.2:p.Leu92=
XM_011520117.1:c.275_277delinsTCA XP_011518419.1:p.Leu92=
XM_011520118.1:c.275_277delinsTCA XP_011518420.1:p.Leu92=