Canonical Allele Identifier: CA1969335959
Gene: MYBPC3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333736_47333738delinsTGA , CM000673.2:g.47333736_47333738delinsTGA GRCh38
NC_000011.9:g.47355287_47355289delinsTGA , CM000673.1:g.47355287_47355289delinsTGA GRCh37
NC_000011.8:g.47311863_47311865delinsTGA NCBI36
NG_007667.1:g.23965_23967delinsTCA , LRG_386:g.23965_23967delinsTCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3009_3011delinsTCA MANE Select ENSP00000442795.1:p.Pro1003=
ENST00000256993.8:c.3009_3011delinsTCA ENSP00000256993.5:p.Pro1003=
ENST00000399249.6:c.3009_3011delinsTCA ENSP00000382193.2:p.Pro1003=
ENST00000545968.5:c.3009_3011delinsTCA ENSP00000442795.1:p.Pro1003=
NM_000256.3:c.3009_3011delinsTCA , LRG_386t1:c.3009_3011delinsTCA MANE Select NP_000247.2:p.Pro1003=
XM_011520117.1:c.2991_2993delinsTCA XP_011518419.1:p.Pro997=
XM_011520118.1:c.2928_2930delinsTCA XP_011518420.1:p.Pro976=
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