Canonical Allele Identifier: CA1799889924
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1825305376
gnomAD v4: 8-86739619-AGTT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739620_86739622del , CM000670.2:g.86739620_86739622del GRCh38
NC_000008.10:g.87751848_87751850del , CM000670.1:g.87751848_87751850del GRCh37
NC_000008.9:g.87820964_87820966del NCBI36
NG_016980.1:g.9054_9056del

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.211+33_211+35del MANE Select ENSP00000316605.5:n.211+33_211+35del
ENST00000681746.1:c.211+33_211+35del ENSP00000505959.1:n.211+33_211+35del
ENST00000320005.5:c.211+33_211+35del ENSP00000316605.5:n.211+33_211+35del
ENST00000519777.1:n.193+33_193+35del
NM_019098.4:c.211+33_211+35del NP_061971.3:n.211+33_211+35del
NM_019098.5:c.211+33_211+35del MANE Select NP_061971.3:n.211+33_211+35del
Search 100 bp 5'
Search 100 bp 3'