Canonical Allele Identifier: CA2781158515
Gene: CNGB3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739922del , CM000670.2:g.86739922del GRCh38
NC_000008.10:g.87752150del , CM000670.1:g.87752150del GRCh37
NC_000008.9:g.87821266del NCBI36
NG_016980.1:g.8754del

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.130-186del MANE Select ENSP00000316605.5:n.130-186del
ENST00000681746.1:c.130-186del ENSP00000505959.1:n.130-186del
ENST00000320005.5:c.130-186del ENSP00000316605.5:n.130-186del
ENST00000519777.1:n.112-186del
NM_019098.4:c.130-186del NP_061971.3:n.130-186del
NM_019098.5:c.130-186del MANE Select NP_061971.3:n.130-186del
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