Canonical Allele Identifier: CA077900
Gene: MYBPC3 HGNC NCBI

Linked Data

dbSNP Id: rs776590526
ExAC: 11:47364817 TA / T
gnomAD v2: 11-47364817-TA-T
gnomAD v4: 11-47343266-TA-T
MyVariant Identifiers: chr11:g.47364818del (hg19) chr11:g.47343267del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47343267del , CM000673.2:g.47343267del GRCh38
NC_000011.9:g.47364818del , CM000673.1:g.47364818del GRCh37
NC_000011.8:g.47321394del NCBI36
NG_007667.1:g.14436del , LRG_386:g.14436del

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1224-5del MANE Select ENSP00000442795.1:n.1224-5del
ENST00000256993.8:c.1224-119del ENSP00000256993.5:n.1224-119del
ENST00000399249.6:c.1224-5del ENSP00000382193.2:n.1224-5del
ENST00000544791.1:c.1224-5del ENSP00000444259.1:n.1224-5del
ENST00000545968.5:c.1224-5del ENSP00000442795.1:n.1224-5del
NM_000256.3:c.1224-5del , LRG_386t1:c.1224-5del MANE Select NP_000247.2:n.1224-5del
XM_011520117.1:c.1206-5del XP_011518419.1:n.1206-5del
XM_011520118.1:c.1224-5del XP_011518420.1:n.1224-5del
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