Canonical Allele Identifier: CA1073160930
Gene: CMBL HGNC NCBI

Linked Data

dbSNP Id: rs1746603597
gnomAD v3: 5-10286357-AGACG-A
gnomAD v4: 5-10286357-AGACG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.10286361_10286364del , CM000667.2:g.10286361_10286364del GRCh38
NC_000005.9:g.10286473_10286476del , CM000667.1:g.10286473_10286476del GRCh37
NC_000005.8:g.10339473_10339476del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000296658.4:c.459_462del MANE Select ENSP00000296658.3:p.Val154MetfsTer13
ENST00000296658.3:c.459_462del ENSP00000296658.3:p.Val154MetfsTer13
ENST00000506821.1:n.713_716del
ENST00000510532.5:n.527_530del
ENST00000511963.5:n.567_570del
NM_138809.3:c.459_462del NP_620164.1:p.Val154MetfsTer13
NM_138809.4:c.459_462del MANE Select NP_620164.1:p.Val154MetfsTer13
Search 100 bp 5'
Search 100 bp 3'