Canonical Allele Identifier: CA2687827865
Gene: CNGB3 HGNC NCBI

Linked Data

gnomAD v4: 8-86739619-A-ATT
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739619_86739620insTT , CM000670.2:g.86739619_86739620insTT GRCh38
NC_000008.10:g.87751847_87751848insTT , CM000670.1:g.87751847_87751848insTT GRCh37
NC_000008.9:g.87820963_87820964insTT NCBI36
NG_016980.1:g.9056_9057insAA

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.211+35_211+36insAA MANE Select ENSP00000316605.5:n.211+35_211+36insAA
ENST00000681746.1:c.211+35_211+36insAA ENSP00000505959.1:n.211+35_211+36insAA
ENST00000320005.5:c.211+35_211+36insAA ENSP00000316605.5:n.211+35_211+36insAA
ENST00000519777.1:n.193+35_193+36insAA
NM_019098.4:c.211+35_211+36insAA NP_061971.3:n.211+35_211+36insAA
NM_019098.5:c.211+35_211+36insAA MANE Select NP_061971.3:n.211+35_211+36insAA
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