Canonical Allele Identifier: CA2673231732
Gene: CMBL HGNC NCBI

Linked Data

gnomAD v4: 5-10286424-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.10286425del , CM000667.2:g.10286425del GRCh38
NC_000005.9:g.10286537del , CM000667.1:g.10286537del GRCh37
NC_000005.8:g.10339537del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296658.4:c.395del MANE Select ENSP00000296658.3:p.Cys132SerfsTer10
ENST00000296658.3:c.395del ENSP00000296658.3:p.Cys132SerfsTer10
ENST00000506821.1:n.649del
ENST00000510532.5:n.463del
ENST00000511963.5:n.503del
NM_138809.3:c.395del NP_620164.1:p.Cys132SerfsTer10
NM_138809.4:c.395del MANE Select NP_620164.1:p.Cys132SerfsTer10
Search 100 bp 5'
Search 100 bp 3'