Canonical Allele Identifier: CA2781154201
Gene: CNGB3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86576061_86576062insAGA , CM000670.2:g.86576061_86576062insAGA GRCh38
NC_000008.10:g.87588289_87588290insAGA , CM000670.1:g.87588289_87588290insAGA GRCh37
NC_000008.9:g.87657405_87657406insAGA NCBI36
NG_016980.1:g.172614_172615insTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.2172_2173insTCT MANE Select ENSP00000316605.5:p.Glu724_Asp725insSer
ENST00000681546.1:n.1992_1993insTCT
ENST00000681746.1:c.*583_*584insTCT ENSP00000505959.1:n.*583_*584insTCT
ENST00000320005.5:c.2172_2173insTCT ENSP00000316605.5:p.Glu724_Asp725insSer
ENST00000517327.5:c.276+2627_276+2628insTCT ENSP00000428329.1:n.276+2627_276+2628insTCT
NM_019098.4:c.2172_2173insTCT NP_061971.3:p.Glu724_Asp725insSer
XM_011517138.1:c.1758_1759insTCT XP_011515440.1:p.Glu586_Asp587insSer
XM_011517138.2:c.1758_1759insTCT XP_011515440.1:p.Glu586_Asp587insSer
NM_019098.5:c.2172_2173insTCT MANE Select NP_061971.3:p.Glu724_Asp725insSer
Search 100 bp 5'
Search 100 bp 3'