Canonical Allele Identifier: CA2613394101
Gene: MYBPC3 HGNC NCBI

Linked Data

gnomAD v4: 11-47333713-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333717del , CM000673.2:g.47333717del GRCh38
NC_000011.9:g.47355268del , CM000673.1:g.47355268del GRCh37
NC_000011.8:g.47311844del NCBI36
NG_007667.1:g.23989del , LRG_386:g.23989del

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3033del MANE Select ENSP00000442795.1:p.Gln1012SerfsTer8
ENST00000256993.8:c.3033del ENSP00000256993.5:p.Gln1012SerfsTer8
ENST00000399249.6:c.3033del ENSP00000382193.2:p.Gln1012SerfsTer8
ENST00000545968.5:c.3033del ENSP00000442795.1:p.Gln1012SerfsTer8
NM_000256.3:c.3033del , LRG_386t1:c.3033del MANE Select NP_000247.2:p.Gln1012SerfsTer8
XM_011520117.1:c.3015del XP_011518419.1:p.Gln1006SerfsTer8
XM_011520118.1:c.2952del XP_011518420.1:p.Gln985SerfsTer8
Search 100 bp 5'
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