Canonical Allele Identifier: CA677004977
Gene: MYBPC3 HGNC NCBI

Linked Data

dbSNP Id: rs1218774977
gnomAD v4: 11-47347737-GC-G
MyVariant Identifiers: chr11:g.47369289del (hg19) chr11:g.47347738del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47347742del , CM000673.2:g.47347742del GRCh38
NC_000011.9:g.47369293del , CM000673.1:g.47369293del GRCh37
NC_000011.8:g.47325869del NCBI36
NG_007667.1:g.9965del , LRG_386:g.9965del

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.822-58del MANE Select ENSP00000442795.1:n.822-58del
ENST00000256993.8:c.822-58del ENSP00000256993.5:n.822-58del
ENST00000399249.6:c.822-58del ENSP00000382193.2:n.822-58del
ENST00000544791.1:c.822-58del ENSP00000444259.1:n.822-58del
ENST00000545968.5:c.822-58del ENSP00000442795.1:n.822-58del
NM_000256.3:c.822-58del , LRG_386t1:c.822-58del MANE Select NP_000247.2:n.822-58del
XM_011520117.1:c.822-58del XP_011518419.1:n.822-58del
XM_011520118.1:c.822-58del XP_011518420.1:n.822-58del
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