Canonical Allele Identifier: CA1969335454
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333374_47333378delinsCAGTG , CM000673.2:g.47333374_47333378delinsCAGTG GRCh38
NC_000011.9:g.47354925_47354929delinsCAGTG , CM000673.1:g.47354925_47354929delinsCAGTG GRCh37
NC_000011.8:g.47311501_47311505delinsCAGTG NCBI36
NG_007667.1:g.24325_24329delinsCACTG , LRG_386:g.24325_24329delinsCACTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3191-45_3191-41delinsCACTG MANE Select ENSP00000442795.1:n.3191-45_3191-41delinsCACTG
ENST00000256993.8:c.3191-45_3191-41delinsCACTG ENSP00000256993.5:n.3191-45_3191-41delinsCACTG
ENST00000399249.6:c.3191-45_3191-41delinsCACTG ENSP00000382193.2:n.3191-45_3191-41delinsCACTG
ENST00000545968.5:c.3191-45_3191-41delinsCACTG ENSP00000442795.1:n.3191-45_3191-41delinsCACTG
NM_000256.3:c.3191-45_3191-41delinsCACTG , LRG_386t1:c.3191-45_3191-41delinsCACTG MANE Select NP_000247.2:n.3191-45_3191-41delinsCACTG
XM_011520117.1:c.3173-45_3173-41delinsCACTG XP_011518419.1:n.3173-45_3173-41delinsCACTG
XM_011520118.1:c.3110-45_3110-41delinsCACTG XP_011518420.1:n.3110-45_3110-41delinsCACTG