Canonical Allele Identifier: CA2781154195
Gene: CNGB3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86576049_86576050insACA , CM000670.2:g.86576049_86576050insACA GRCh38
NC_000008.10:g.87588277_87588278insACA , CM000670.1:g.87588277_87588278insACA GRCh37
NC_000008.9:g.87657393_87657394insACA NCBI36
NG_016980.1:g.172626_172627insTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.2184_2185insTGT MANE Select ENSP00000316605.5:p.Lys728_Glu729insCys
ENST00000681546.1:n.2004_2005insTGT
ENST00000681746.1:c.*595_*596insTGT ENSP00000505959.1:n.*595_*596insTGT
ENST00000320005.5:c.2184_2185insTGT ENSP00000316605.5:p.Lys728_Glu729insCys
ENST00000517327.5:c.276+2639_276+2640insTGT ENSP00000428329.1:n.276+2639_276+2640insTGT
NM_019098.4:c.2184_2185insTGT NP_061971.3:p.Lys728_Glu729insCys
XM_011517138.1:c.1770_1771insTGT XP_011515440.1:p.Lys590_Glu591insCys
XM_011517138.2:c.1770_1771insTGT XP_011515440.1:p.Lys590_Glu591insCys
NM_019098.5:c.2184_2185insTGT MANE Select NP_061971.3:p.Lys728_Glu729insCys
Search 100 bp 5'
Search 100 bp 3'