Canonical Allele Identifier: CA2687827369
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v4: 8-86670817-CA-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86670821del , CM000670.2:g.86670821del GRCh38
NC_000008.10:g.87683049del , CM000670.1:g.87683049del GRCh37
NC_000008.9:g.87752165del NCBI36
NG_016980.1:g.77858del

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.493+126del MANE Select ENSP00000316605.5:n.493+126del
ENST00000680314.1:n.254+126del
ENST00000681746.1:c.493+126del ENSP00000505959.1:n.493+126del
ENST00000320005.5:c.493+126del ENSP00000316605.5:n.493+126del
NM_019098.4:c.493+126del NP_061971.3:n.493+126del
XM_011517138.1:c.79+126del XP_011515440.1:n.79+126del
XM_011517138.2:c.79+126del XP_011515440.1:n.79+126del
NM_019098.5:c.493+126del MANE Select NP_061971.3:n.493+126del
Search 100 bp 5'
Search 100 bp 3'