Canonical Allele Identifier: CA2781154092
Gene: CNGB3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86574369_86574370dup , CM000670.2:g.86574369_86574370dup GRCh38
NC_000008.10:g.87586597_87586598dup , CM000670.1:g.87586597_87586598dup GRCh37
NC_000008.9:g.87655713_87655714dup NCBI36
NG_016980.1:g.174306_174307dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.*1434_*1435dup MANE Select ENSP00000316605.5:n.*1434_*1435dup
ENST00000681546.1:n.3684_3685dup
ENST00000681746.1:c.*2275_*2276dup ENSP00000505959.1:n.*2275_*2276dup
ENST00000320005.5:c.*1434_*1435dup ENSP00000316605.5:n.*1434_*1435dup
ENST00000517327.5:c.276+4319_276+4320dup ENSP00000428329.1:n.276+4319_276+4320dup
NM_019098.4:c.*1434_*1435dup NP_061971.3:n.*1434_*1435dup
XM_011517138.1:c.*1434_*1435dup XP_011515440.1:n.*1434_*1435dup
XM_011517138.2:c.*1434_*1435dup XP_011515440.1:n.*1434_*1435dup
NM_019098.5:c.*1434_*1435dup MANE Select NP_061971.3:n.*1434_*1435dup
Search 100 bp 5'
Search 100 bp 3'