Canonical Allele Identifier: CA1116229584
Gene: CNGB3 HGNC NCBI

Linked Data

dbSNP Id: rs1821655449
gnomAD v3: 8-86576065-ATTTTCT-A
gnomAD v4: 8-86576065-ATTTTCT-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86576070_86576075del , CM000670.2:g.86576070_86576075del GRCh38
NC_000008.10:g.87588298_87588303del , CM000670.1:g.87588298_87588303del GRCh37
NC_000008.9:g.87657414_87657419del NCBI36
NG_016980.1:g.172605_172610del

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.2163_2168del MANE Select ENSP00000316605.5:p.Lys721_Glu722del
ENST00000681546.1:n.1983_1988del
ENST00000681746.1:c.*574_*579del ENSP00000505959.1:n.*574_*579del
ENST00000320005.5:c.2163_2168del ENSP00000316605.5:p.Lys721_Glu722del
ENST00000517327.5:c.276+2618_276+2623del ENSP00000428329.1:n.276+2618_276+2623del
NM_019098.4:c.2163_2168del NP_061971.3:p.Lys721_Glu722del
XM_011517138.1:c.1749_1754del XP_011515440.1:p.Lys583_Glu584del
XM_011517138.2:c.1749_1754del XP_011515440.1:p.Lys583_Glu584del
NM_019098.5:c.2163_2168del MANE Select NP_061971.3:p.Lys721_Glu722del
Search 100 bp 5'
Search 100 bp 3'