Canonical Allele Identifier: CA1969334034
Gene: MYBPC3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47332568_47332569delinsTG , CM000673.2:g.47332568_47332569delinsTG GRCh38
NC_000011.9:g.47354119_47354120delinsTG , CM000673.1:g.47354119_47354120delinsTG GRCh37
NC_000011.8:g.47310695_47310696delinsTG NCBI36
NG_007667.1:g.25134_25135delinsCA , LRG_386:g.25134_25135delinsCA

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.3624_3625delinsCA MANE Select ENSP00000442795.1:p.Pro1208=
ENST00000256993.8:c.3624_3625delinsCA ENSP00000256993.5:p.Pro1208=
ENST00000399249.6:c.3624_3625delinsCA ENSP00000382193.2:p.Pro1208=
ENST00000545968.5:c.3624_3625delinsCA ENSP00000442795.1:p.Pro1208=
NM_000256.3:c.3624_3625delinsCA , LRG_386t1:c.3624_3625delinsCA MANE Select NP_000247.2:p.Pro1208=
XM_011520117.1:c.3606_3607delinsCA XP_011518419.1:p.Pro1202=
XM_011520118.1:c.3543_3544delinsCA XP_011518420.1:p.Pro1181=
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