Canonical Allele Identifier: CA2687825205
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v4: 8-86643866-GA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86643868del , CM000670.2:g.86643868del GRCh38
NC_000008.10:g.87656096del , CM000670.1:g.87656096del GRCh37
NC_000008.9:g.87725212del NCBI36
NG_016980.1:g.104809del

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.1062del MANE Select ENSP00000316605.5:p.Arg355GlufsTer?
ENST00000681546.1:n.882del
ENST00000681746.1:c.1062del ENSP00000505959.1:p.Arg355GlufsTer?
ENST00000320005.5:c.1062del ENSP00000316605.5:p.Arg355GlufsTer?
NM_019098.4:c.1062del NP_061971.3:p.Arg355GlufsTer?
XM_011517138.1:c.648del XP_011515440.1:p.Arg217GlufsTer?
XM_011517138.2:c.648del XP_011515440.1:p.Arg217GlufsTer?
NM_019098.5:c.1062del MANE Select NP_061971.3:p.Arg355GlufsTer?
Search 100 bp 5'
Search 100 bp 3'