Canonical Allele Identifier: CA2580078973
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2025338
ClinVar RCV Id: RCV002853079
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86575922_86575923del , CM000670.2:g.86575922_86575923del GRCh38
NC_000008.10:g.87588150_87588151del , CM000670.1:g.87588150_87588151del GRCh37
NC_000008.9:g.87657266_87657267del NCBI36
NG_016980.1:g.172754_172755del

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.2312_2313del MANE Select ENSP00000316605.5:p.Arg771LysfsTer22
ENST00000681546.1:n.2132_2133del
ENST00000681746.1:c.*723_*724del ENSP00000505959.1:n.*723_*724del
ENST00000320005.5:c.2312_2313del ENSP00000316605.5:p.Arg771LysfsTer22
ENST00000517327.5:c.276+2767_276+2768del ENSP00000428329.1:n.276+2767_276+2768del
NM_019098.4:c.2312_2313del NP_061971.3:p.Arg771LysfsTer22
XM_011517138.1:c.1898_1899del XP_011515440.1:p.Arg633LysfsTer22
XM_011517138.2:c.1898_1899del XP_011515440.1:p.Arg633LysfsTer22
NM_019098.5:c.2312_2313del MANE Select NP_061971.3:p.Arg771LysfsTer22
Search 100 bp 5'
Search 100 bp 3'