Canonical Allele Identifier: CA180328578
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs989289169
gnomAD v3: 8-86575564-A-AGAAGAT
gnomAD v4: 8-86575564-A-AGAAGAT
MyVariant Identifiers: chr8:g.87587792_87587793insGAAGAT (hg19) chr8:g.86575564_86575565insGAAGAT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86575565_86575570dup , CM000670.2:g.86575565_86575570dup GRCh38
NC_000008.10:g.87587793_87587798dup , CM000670.1:g.87587793_87587798dup GRCh37
NC_000008.9:g.87656909_87656914dup NCBI36
NG_016980.1:g.173106_173111dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.*234_*239dup MANE Select ENSP00000316605.5:n.*234_*239dup
ENST00000681546.1:n.2484_2489dup
ENST00000681746.1:c.*1075_*1080dup ENSP00000505959.1:n.*1075_*1080dup
ENST00000320005.5:c.*234_*239dup ENSP00000316605.5:n.*234_*239dup
ENST00000517327.5:c.276+3119_276+3124dup ENSP00000428329.1:n.276+3119_276+3124dup
NM_019098.4:c.*234_*239dup NP_061971.3:n.*234_*239dup
XM_011517138.1:c.*234_*239dup XP_011515440.1:n.*234_*239dup
XM_011517138.2:c.*234_*239dup XP_011515440.1:n.*234_*239dup
NM_019098.5:c.*234_*239dup MANE Select NP_061971.3:n.*234_*239dup
Search 100 bp 5'
Search 100 bp 3'