Canonical Allele Identifier: CA2613398223
Gene: MYBPC3 HGNC NCBI

Linked Data

gnomAD v4: 11-47341164-T-TTTTTAC
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47341165_47341166insTTTACT , CM000673.2:g.47341165_47341166insTTTACT GRCh38
NC_000011.9:g.47362716_47362717insTTTACT , CM000673.1:g.47362716_47362717insTTTACT GRCh37
NC_000011.8:g.47319292_47319293insTTTACT NCBI36
NG_007667.1:g.16538_16539insGTAAAA , LRG_386:g.16538_16539insGTAAAA

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.1870_1871insGTAAAA MANE Select ENSP00000442795.1:p.Cys623_Asn624insSerLy...
ENST00000256993.8:c.1870_1871insGTAAAA ENSP00000256993.5:p.Cys623_Asn624insSerLy...
ENST00000399249.6:c.1870_1871insGTAAAA ENSP00000382193.2:p.Cys623_Asn624insSerLy...
ENST00000544791.1:c.1870_1871insGTAAAA ENSP00000444259.1:p.Cys623_Asn624insSerLy...
ENST00000545968.5:c.1870_1871insGTAAAA ENSP00000442795.1:p.Cys623_Asn624insSerLy...
NM_000256.3:c.1870_1871insGTAAAA , LRG_386t1:c.1870_1871insGTAAAA MANE Select NP_000247.2:p.Cys623_Asn624insSerLys
XM_011520117.1:c.1852_1853insGTAAAA XP_011518419.1:p.Cys617_Asn618insSerLys
XM_011520118.1:c.1870_1871insGTAAAA XP_011518420.1:p.Cys623_Asn624insSerLys
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