Canonical Allele Identifier: CA1969334044
Gene: MYBPC3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47332572_47332573delinsGC , CM000673.2:g.47332572_47332573delinsGC GRCh38
NC_000011.9:g.47354123_47354124delinsGC , CM000673.1:g.47354123_47354124delinsGC GRCh37
NC_000011.8:g.47310699_47310700delinsGC NCBI36
NG_007667.1:g.25130_25131delinsGC , LRG_386:g.25130_25131delinsGC

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.3620_3621delinsGC MANE Select ENSP00000442795.1:p.Ser1207=
ENST00000256993.8:c.3620_3621delinsGC ENSP00000256993.5:p.Ser1207=
ENST00000399249.6:c.3620_3621delinsGC ENSP00000382193.2:p.Ser1207=
ENST00000545968.5:c.3620_3621delinsGC ENSP00000442795.1:p.Ser1207=
NM_000256.3:c.3620_3621delinsGC , LRG_386t1:c.3620_3621delinsGC MANE Select NP_000247.2:p.Ser1207=
XM_011520117.1:c.3602_3603delinsGC XP_011518419.1:p.Ser1201=
XM_011520118.1:c.3539_3540delinsGC XP_011518420.1:p.Ser1180=
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