Canonical Allele Identifier: CA1969333421
Gene: MYBPC3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47332159_47332160delinsGC , CM000673.2:g.47332159_47332160delinsGC GRCh38
NC_000011.9:g.47353710_47353711delinsGC , CM000673.1:g.47353710_47353711delinsGC GRCh37
NC_000011.8:g.47310286_47310287delinsGC NCBI36
NG_007667.1:g.25543_25544delinsGC , LRG_386:g.25543_25544delinsGC

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.3726_3727delinsGC MANE Select ENSP00000442795.1:p.Lys1242=
ENST00000256993.8:c.3726_3727delinsGC ENSP00000256993.5:p.Lys1242=
ENST00000399249.6:c.3726_3727delinsGC ENSP00000382193.2:p.Lys1242=
ENST00000545968.5:c.3726_3727delinsGC ENSP00000442795.1:p.Lys1242=
NM_000256.3:c.3726_3727delinsGC , LRG_386t1:c.3726_3727delinsGC MANE Select NP_000247.2:p.Lys1242=
XM_011520117.1:c.3708_3709delinsGC XP_011518419.1:p.Lys1236=
XM_011520118.1:c.3645_3646delinsGC XP_011518420.1:p.Lys1215=
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