Canonical Allele Identifier: CA1969335458
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333375_47333376delinsAG , CM000673.2:g.47333375_47333376delinsAG GRCh38
NC_000011.9:g.47354926_47354927delinsAG , CM000673.1:g.47354926_47354927delinsAG GRCh37
NC_000011.8:g.47311502_47311503delinsAG NCBI36
NG_007667.1:g.24327_24328delinsCT , LRG_386:g.24327_24328delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3191-43_3191-42delinsCT MANE Select ENSP00000442795.1:n.3191-43_3191-42delinsCT
ENST00000256993.8:c.3191-43_3191-42delinsCT ENSP00000256993.5:n.3191-43_3191-42delinsCT
ENST00000399249.6:c.3191-43_3191-42delinsCT ENSP00000382193.2:n.3191-43_3191-42delinsCT
ENST00000545968.5:c.3191-43_3191-42delinsCT ENSP00000442795.1:n.3191-43_3191-42delinsCT
NM_000256.3:c.3191-43_3191-42delinsCT , LRG_386t1:c.3191-43_3191-42delinsCT MANE Select NP_000247.2:n.3191-43_3191-42delinsCT
XM_011520117.1:c.3173-43_3173-42delinsCT XP_011518419.1:n.3173-43_3173-42delinsCT
XM_011520118.1:c.3110-43_3110-42delinsCT XP_011518420.1:n.3110-43_3110-42delinsCT