Canonical Allele Identifier: CA654413313
Gene: MYBPC3 HGNC NCBI

Linked Data

gnomAD v4: 11-47346413-GC-G
COSMIC: COSN20047467
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47346418del , CM000673.2:g.47346418del GRCh38
NC_000011.9:g.47367969del , CM000673.1:g.47367969del GRCh37
NC_000011.8:g.47324545del NCBI36
NG_007667.1:g.11289del , LRG_386:g.11289del

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.927-44del MANE Select ENSP00000442795.1:n.927-44del
ENST00000256993.8:c.927-44del ENSP00000256993.5:n.927-44del
ENST00000399249.6:c.927-44del ENSP00000382193.2:n.927-44del
ENST00000544791.1:c.927-44del ENSP00000444259.1:n.927-44del
ENST00000545968.5:c.927-44del ENSP00000442795.1:n.927-44del
NM_000256.3:c.927-44del , LRG_386t1:c.927-44del MANE Select NP_000247.2:n.927-44del
XM_011520117.1:c.909-44del XP_011518419.1:n.909-44del
XM_011520118.1:c.927-44del XP_011518420.1:n.927-44del
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