Canonical Allele Identifier: CA1799889996
Gene: CNGB3 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739637_86739639delinsTTC , CM000670.2:g.86739637_86739639delinsTTC GRCh38
NC_000008.10:g.87751865_87751867delinsTTC , CM000670.1:g.87751865_87751867delinsTTC GRCh37
NC_000008.9:g.87820981_87820983delinsTTC NCBI36
NG_016980.1:g.9037_9039delinsGAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.211+16_211+18delinsGAA MANE Select ENSP00000316605.5:n.211+16_211+18delinsGAA
ENST00000681746.1:c.211+16_211+18delinsGAA ENSP00000505959.1:n.211+16_211+18delinsGAA
ENST00000320005.5:c.211+16_211+18delinsGAA ENSP00000316605.5:n.211+16_211+18delinsGAA
ENST00000519777.1:n.193+16_193+18delinsGAA
NM_019098.4:c.211+16_211+18delinsGAA NP_061971.3:n.211+16_211+18delinsGAA
NM_019098.5:c.211+16_211+18delinsGAA MANE Select NP_061971.3:n.211+16_211+18delinsGAA
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