Canonical Allele Identifier: CA2580078981
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2135311
ClinVar RCV Id: RCV003048565
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86632823_86632824del , CM000670.2:g.86632823_86632824del GRCh38
NC_000008.10:g.87645051_87645052del , CM000670.1:g.87645051_87645052del GRCh37
NC_000008.9:g.87714167_87714168del NCBI36
NG_016980.1:g.115853_115854del

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.1249_1250del MANE Select ENSP00000316605.5:p.Leu417IlefsTer2
ENST00000681546.1:n.1069_1070del
ENST00000681746.1:c.1249_1250del ENSP00000505959.1:p.Leu417IlefsTer2
ENST00000320005.5:c.1249_1250del ENSP00000316605.5:p.Leu417IlefsTer2
NM_019098.4:c.1249_1250del NP_061971.3:p.Leu417IlefsTer2
XM_011517138.1:c.835_836del XP_011515440.1:p.Leu279IlefsTer2
XM_011517138.2:c.835_836del XP_011515440.1:p.Leu279IlefsTer2
NM_019098.5:c.1249_1250del MANE Select NP_061971.3:p.Leu417IlefsTer2
Search 100 bp 5'
Search 100 bp 3'