Canonical Allele Identifier: CA2687827862
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v4: 8-86739613-CTT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739617_86739618del , CM000670.2:g.86739617_86739618del GRCh38
NC_000008.10:g.87751845_87751846del , CM000670.1:g.87751845_87751846del GRCh37
NC_000008.9:g.87820961_87820962del NCBI36
NG_016980.1:g.9061_9062del

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.211+40_211+41del MANE Select ENSP00000316605.5:n.211+40_211+41del
ENST00000681746.1:c.211+40_211+41del ENSP00000505959.1:n.211+40_211+41del
ENST00000320005.5:c.211+40_211+41del ENSP00000316605.5:n.211+40_211+41del
ENST00000519777.1:n.193+40_193+41del
NM_019098.4:c.211+40_211+41del NP_061971.3:n.211+40_211+41del
NM_019098.5:c.211+40_211+41del MANE Select NP_061971.3:n.211+40_211+41del
Search 100 bp 5'
Search 100 bp 3'