Canonical Allele Identifier: CA2740958329

Gene: CNGB3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86576049_86576050insCTTTTGTTTATCTTCATTTTC , CM000670.2:g.86576049_86576050insCTTTTGTTTATCTTCATTTTC	GRCh38
NC_000008.10:g.87588277_87588278insCTTTTGTTTATCTTCATTTTC , CM000670.1:g.87588277_87588278insCTTTTGTTTATCTTCATTTTC	GRCh37
NC_000008.9:g.87657393_87657394insCTTTTGTTTATCTTCATTTTC	NCBI36
NG_016980.1:g.172641_172642insCAAAAGGAAAATGAAGATAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320005.6:c.2199_2200insCAAAAGGAAAATGAAGATAAA MANE Select	ENSP00000316605.5:p.Lys733_Gly734insGlnLysGluAsnGluAspLys
ENST00000681546.1:n.2019_2020insCAAAAGGAAAATGAAGATAAA
ENST00000681746.1:c.*610_*611insCAAAAGGAAAATGAAGATAAA	ENSP00000505959.1:n.*610_*611insCAAAAGGAAAATGAAGATAAA
ENST00000320005.5:c.2199_2200insCAAAAGGAAAATGAAGATAAA	ENSP00000316605.5:p.Lys733_Gly734insGlnLysGluAsnGluAspLys
ENST00000517327.5:c.276+2654_276+2655insCAAAAGGAAAATGAAGATAAA	ENSP00000428329.1:n.276+2654_276+2655insCAAAAGGAAAATGAAGATAAA...
NM_019098.4:c.2199_2200insCAAAAGGAAAATGAAGATAAA	NP_061971.3:p.Lys733_Gly734insGlnLysGluAsnGluAspLys
XM_011517138.1:c.1785_1786insCAAAAGGAAAATGAAGATAAA	XP_011515440.1:p.Lys595_Gly596insGlnLysGluAsnGluAspLys
XM_011517138.2:c.1785_1786insCAAAAGGAAAATGAAGATAAA	XP_011515440.1:p.Lys595_Gly596insGlnLysGluAsnGluAspLys
NM_019098.5:c.2199_2200insCAAAAGGAAAATGAAGATAAA MANE Select	NP_061971.3:p.Lys733_Gly734insGlnLysGluAsnGluAspLys