Canonical Allele Identifier: CA1969335902
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47342656_47342659delinsCGTT , CM000673.2:g.47342656_47342659delinsCGTT GRCh38
NC_000011.9:g.47364207_47364210delinsCGTT , CM000673.1:g.47364207_47364210delinsCGTT GRCh37
NC_000011.8:g.47320783_47320786delinsCGTT NCBI36
NG_007667.1:g.15044_15047delinsAACG , LRG_386:g.15044_15047delinsAACG

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.1543_1546delinsAACG MANE Select ENSP00000442795.1:p.Asn515=
ENST00000256993.8:c.1543_1546delinsAACG ENSP00000256993.5:p.Asn515=
ENST00000399249.6:c.1543_1546delinsAACG ENSP00000382193.2:p.Asn515=
ENST00000544791.1:c.1543_1546delinsAACG ENSP00000444259.1:p.Asn515=
ENST00000545968.5:c.1543_1546delinsAACG ENSP00000442795.1:p.Asn515=
NM_000256.3:c.1543_1546delinsAACG , LRG_386t1:c.1543_1546delinsAACG MANE Select NP_000247.2:p.Asn515=
XM_011520117.1:c.1525_1528delinsAACG XP_011518419.1:p.Asn509=
XM_011520118.1:c.1543_1546delinsAACG XP_011518420.1:p.Asn515=